UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87968397G>A | CA7297232 | GALC | c.846C>T (p.Asp282=) c.777C>T (p.Asp259=) c.768C>T (p.Asp256=) n.836C>T n.601C>T c.678C>T (p.Asp226=) c.213C>T (p.Asp71=) c.*244C>T (n.*244C>T) c.836C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.87968397G>C | CA390747880 | GALC | c.846C>G (p.Asp282Glu) c.777C>G (p.Asp259Glu) c.768C>G (p.Asp256Glu) n.836C>G n.601C>G c.678C>G (p.Asp226Glu) c.213C>G (p.Asp71Glu) c.*244C>G (n.*244C>G) c.836C>G | gnomAD v4 |
| 14 | g.87968397G= | CA2153346460 | GALC | c.846C= (p.Asp282=) c.777C= (p.Asp259=) c.768C= (p.Asp256=) n.836C= n.601C= c.678C= (p.Asp226=) c.213C= (p.Asp71=) c.*244C= (n.*244C=) c.836C= | |
| 14 | g.87968397G>T | CA390747881 | GALC | c.846C>A (p.Asp282Glu) c.777C>A (p.Asp259Glu) c.768C>A (p.Asp256Glu) n.836C>A n.601C>A c.678C>A (p.Asp226Glu) c.213C>A (p.Asp71Glu) c.*244C>A (n.*244C>A) c.836C>A | |
| 14 | g.87968398T>A | CA7297233 | GALC | c.845A>T (p.Asp282Val) c.776A>T (p.Asp259Val) c.767A>T (p.Asp256Val) n.835A>T n.600A>T c.677A>T (p.Asp226Val) c.212A>T (p.Asp71Val) c.*243A>T (n.*243A>T) c.835A>T | dbSNP ExAC gnomAD v2 |
| 14 | g.87968398T>C | CA390747884 | GALC | c.845A>G (p.Asp282Gly) c.776A>G (p.Asp259Gly) c.767A>G (p.Asp256Gly) n.835A>G n.600A>G c.677A>G (p.Asp226Gly) c.212A>G (p.Asp71Gly) c.*243A>G (n.*243A>G) c.835A>G | |
| 14 | g.87968398T>G | CA390747885 | GALC | c.845A>C (p.Asp282Ala) c.776A>C (p.Asp259Ala) c.767A>C (p.Asp256Ala) n.835A>C n.600A>C c.677A>C (p.Asp226Ala) c.212A>C (p.Asp71Ala) c.*243A>C (n.*243A>C) c.835A>C | |
| 14 | g.87968398T= | CA2153346461 | GALC | c.845A= (p.Asp282=) c.776A= (p.Asp259=) c.767A= (p.Asp256=) n.835A= n.600A= c.677A= (p.Asp226=) c.212A= (p.Asp71=) c.*243A= (n.*243A=) c.835A= | |
| 14 | g.87968399C>A | CA390747894 | GALC | c.844G>T (p.Asp282Tyr) c.775G>T (p.Asp259Tyr) c.766G>T (p.Asp256Tyr) n.834G>T n.599G>T c.676G>T (p.Asp226Tyr) c.211G>T (p.Asp71Tyr) c.*242G>T (n.*242G>T) c.834G>T | |
| 14 | g.87968399C>G | CA390747892 | GALC | c.844G>C (p.Asp282His) c.775G>C (p.Asp259His) c.766G>C (p.Asp256His) n.834G>C n.599G>C c.676G>C (p.Asp226His) c.211G>C (p.Asp71His) c.*242G>C (n.*242G>C) c.834G>C | |
| 14 | g.87968399C>T | CA390747891 | GALC | c.844G>A (p.Asp282Asn) c.775G>A (p.Asp259Asn) c.766G>A (p.Asp256Asn) n.834G>A n.599G>A c.676G>A (p.Asp226Asn) c.211G>A (p.Asp71Asn) c.*242G>A (n.*242G>A) c.834G>A | |
| 14 | g.87968400A>C | CA390747895 | GALC | c.843T>G (p.Ser281Arg) c.774T>G (p.Ser258Arg) c.765T>G (p.Ser255Arg) n.833T>G n.598T>G c.675T>G (p.Ser225Arg) c.210T>G (p.Ser70Arg) c.*241T>G (n.*241T>G) c.833T>G | |
| 14 | g.87968400A>G | CA487365415 | GALC | c.843T>C (p.Ser281=) c.774T>C (p.Ser258=) c.765T>C (p.Ser255=) n.833T>C n.598T>C c.675T>C (p.Ser225=) c.210T>C (p.Ser70=) c.*241T>C (n.*241T>C) c.833T>C | gnomAD v4 |
| 14 | g.87968400A>T | CA390747897 | GALC | c.843T>A (p.Ser281Arg) c.774T>A (p.Ser258Arg) c.765T>A (p.Ser255Arg) n.833T>A n.598T>A c.675T>A (p.Ser225Arg) c.210T>A (p.Ser70Arg) c.*241T>A (n.*241T>A) c.833T>A | |
| 14 | g.87968401C>A | CA390747899 | GALC | c.842G>T (p.Ser281Ile) c.773G>T (p.Ser258Ile) c.764G>T (p.Ser255Ile) n.832G>T n.597G>T c.674G>T (p.Ser225Ile) c.209G>T (p.Ser70Ile) c.*240G>T (n.*240G>T) c.832G>T | |
| 14 | g.87968401C>G | CA390747901 | GALC | c.842G>C (p.Ser281Thr) c.773G>C (p.Ser258Thr) c.764G>C (p.Ser255Thr) n.832G>C n.597G>C c.674G>C (p.Ser225Thr) c.209G>C (p.Ser70Thr) c.*240G>C (n.*240G>C) c.832G>C | |
| 14 | g.87968401C>T | CA390747903 | GALC | c.842G>A (p.Ser281Asn) c.773G>A (p.Ser258Asn) c.764G>A (p.Ser255Asn) n.832G>A n.597G>A c.674G>A (p.Ser225Asn) c.209G>A (p.Ser70Asn) c.*240G>A (n.*240G>A) c.832G>A | |
| 14 | g.87968402T>A | CA390747906 | GALC | c.841A>T (p.Ser281Cys) c.772A>T (p.Ser258Cys) c.763A>T (p.Ser255Cys) n.831A>T n.596A>T c.673A>T (p.Ser225Cys) c.208A>T (p.Ser70Cys) c.*239A>T (n.*239A>T) c.831A>T | |
| 14 | g.87968402T>C | CA390747908 | GALC | c.841A>G (p.Ser281Gly) c.772A>G (p.Ser258Gly) c.763A>G (p.Ser255Gly) n.831A>G n.596A>G c.673A>G (p.Ser225Gly) c.208A>G (p.Ser70Gly) c.*239A>G (n.*239A>G) c.831A>G | |
| 14 | g.87968402T>G | CA390747910 | GALC | c.841A>C (p.Ser281Arg) c.772A>C (p.Ser258Arg) c.763A>C (p.Ser255Arg) n.831A>C n.596A>C c.673A>C (p.Ser225Arg) c.208A>C (p.Ser70Arg) c.*239A>C (n.*239A>C) c.831A>C | |
| 14 | g.87968403A>C | CA390747912 | GALC | c.840T>G (p.Asn280Lys) c.771T>G (p.Asn257Lys) c.762T>G (p.Asn254Lys) n.830T>G n.595T>G c.672T>G (p.Asn224Lys) c.207T>G (p.Asn69Lys) c.*238T>G (n.*238T>G) c.830T>G | |
| 14 | g.87968403A>G | CA487365426 | GALC | c.840T>C (p.Asn280=) c.771T>C (p.Asn257=) c.762T>C (p.Asn254=) n.830T>C n.595T>C c.672T>C (p.Asn224=) c.207T>C (p.Asn69=) c.*238T>C (n.*238T>C) c.830T>C | ClinVar gnomAD v4 |
| 14 | g.87968403A>T | CA390747914 | GALC | c.840T>A (p.Asn280Lys) c.771T>A (p.Asn257Lys) c.762T>A (p.Asn254Lys) n.830T>A n.595T>A c.672T>A (p.Asn224Lys) c.207T>A (p.Asn69Lys) c.*238T>A (n.*238T>A) c.830T>A | |
| 14 | g.87968404T>A | CA390747921 | GALC | c.839A>T (p.Asn280Ile) c.770A>T (p.Asn257Ile) c.761A>T (p.Asn254Ile) n.829A>T n.594A>T c.671A>T (p.Asn224Ile) c.206A>T (p.Asn69Ile) c.*237A>T (n.*237A>T) c.829A>T | |
| 14 | g.87968404T>C | CA390747923 | GALC | c.839A>G (p.Asn280Ser) c.770A>G (p.Asn257Ser) c.761A>G (p.Asn254Ser) n.829A>G n.594A>G c.671A>G (p.Asn224Ser) c.206A>G (p.Asn69Ser) c.*237A>G (n.*237A>G) c.829A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968404T>G | CA390747916 | GALC | c.839A>C (p.Asn280Thr) c.770A>C (p.Asn257Thr) c.761A>C (p.Asn254Thr) n.829A>C n.594A>C c.671A>C (p.Asn224Thr) c.206A>C (p.Asn69Thr) c.*237A>C (n.*237A>C) c.829A>C | |
| 14 | g.87968404T= | CA2153346462 | GALC | c.839A= (p.Asn280=) c.770A= (p.Asn257=) c.761A= (p.Asn254=) n.829A= n.594A= c.671A= (p.Asn224=) c.206A= (p.Asn69=) c.*237A= (n.*237A=) c.829A= | |
| 14 | g.87968405T>A | CA390747925 | GALC | c.838A>T (p.Asn280Tyr) c.769A>T (p.Asn257Tyr) c.760A>T (p.Asn254Tyr) n.828A>T n.593A>T c.670A>T (p.Asn224Tyr) c.205A>T (p.Asn69Tyr) c.*236A>T (n.*236A>T) c.828A>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87968405T>C | CA390747927 | GALC | c.838A>G (p.Asn280Asp) c.769A>G (p.Asn257Asp) c.760A>G (p.Asn254Asp) n.828A>G n.593A>G c.670A>G (p.Asn224Asp) c.205A>G (p.Asn69Asp) c.*236A>G (n.*236A>G) c.828A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87968405T>G | CA390747929 | GALC | c.838A>C (p.Asn280His) c.769A>C (p.Asn257His) c.760A>C (p.Asn254His) n.828A>C n.593A>C c.670A>C (p.Asn224His) c.205A>C (p.Asn69His) c.*236A>C (n.*236A>C) c.828A>C | |
| 14 | g.87968405T= | CA2153346463 | GALC | c.838A= (p.Asn280=) c.769A= (p.Asn257=) c.760A= (p.Asn254=) n.828A= n.593A= c.670A= (p.Asn224=) c.205A= (p.Asn69=) c.*236A= (n.*236A=) c.828A= | |
| 14 | g.87968406T>A | CA390747931 | GALC | c.837A>T (p.Leu279Phe) c.768A>T (p.Leu256Phe) c.759A>T (p.Leu253Phe) n.827A>T n.592A>T c.669A>T (p.Leu223Phe) c.204A>T (p.Leu68Phe) c.*235A>T (n.*235A>T) c.827A>T | |
| 14 | g.87968406T>C | CA487365440 | GALC | c.837A>G (p.Leu279=) c.768A>G (p.Leu256=) c.759A>G (p.Leu253=) n.827A>G n.592A>G c.669A>G (p.Leu223=) c.204A>G (p.Leu68=) c.*235A>G (n.*235A>G) c.827A>G | |
| 14 | g.87968406T>G | CA390747932 | GALC | c.837A>C (p.Leu279Phe) c.768A>C (p.Leu256Phe) c.759A>C (p.Leu253Phe) n.827A>C n.592A>C c.669A>C (p.Leu223Phe) c.204A>C (p.Leu68Phe) c.*235A>C (n.*235A>C) c.827A>C | |
| 14 | g.87968407A= | CA2153346464 | GALC | c.836T= (p.Leu279=) c.767T= (p.Leu256=) c.758T= (p.Leu253=) n.826T= n.591T= c.668T= (p.Leu223=) c.203T= (p.Leu68=) c.*234T= (n.*234T=) c.826T= | |
| 14 | g.87968407A>C | CA390747937 | GALC | c.836T>G (p.Leu279Ter) c.767T>G (p.Leu256Ter) c.758T>G (p.Leu253Ter) n.826T>G n.591T>G c.668T>G (p.Leu223Ter) c.203T>G (p.Leu68Ter) c.*234T>G (n.*234T>G) c.826T>G | dbSNP gnomAD v4 |
| 14 | g.87968407A>G | CA390747935 | GALC | c.836T>C (p.Leu279Ser) c.767T>C (p.Leu256Ser) c.758T>C (p.Leu253Ser) n.826T>C n.591T>C c.668T>C (p.Leu223Ser) c.203T>C (p.Leu68Ser) c.*234T>C (n.*234T>C) c.826T>C | |
| 14 | g.87968407A>T | CA390747936 | GALC | c.836T>A (p.Leu279Ter) c.767T>A (p.Leu256Ter) c.758T>A (p.Leu253Ter) n.826T>A n.591T>A c.668T>A (p.Leu223Ter) c.203T>A (p.Leu68Ter) c.*234T>A (n.*234T>A) c.826T>A | |
| 14 | g.87968409del | CA2597552245 | GALC | c.836del (p.Leu279Ter) c.767del (p.Leu256Ter) c.758del (p.Leu253Ter) n.826del n.591del c.668del (p.Leu223Ter) c.203del (p.Leu68Ter) c.*234del (n.*234del) c.826del | gnomAD v3 gnomAD v4 |
| 14 | g.87968408A>C | CA390747940 | GALC | c.835T>G (p.Leu279Val) c.766T>G (p.Leu256Val) c.757T>G (p.Leu253Val) n.825T>G n.590T>G c.667T>G (p.Leu223Val) c.202T>G (p.Leu68Val) c.*233T>G (n.*233T>G) c.825T>G | |
| 14 | g.87968408A>G | CA487365446 | GALC | c.835T>C (p.Leu279=) c.766T>C (p.Leu256=) c.757T>C (p.Leu253=) n.825T>C n.590T>C c.667T>C (p.Leu223=) c.202T>C (p.Leu68=) c.*233T>C (n.*233T>C) c.825T>C | |
| 14 | g.87968408A>T | CA390747942 | GALC | c.835T>A (p.Leu279Ile) c.766T>A (p.Leu256Ile) c.757T>A (p.Leu253Ile) n.825T>A n.590T>A c.667T>A (p.Leu223Ile) c.202T>A (p.Leu68Ile) c.*233T>A (n.*233T>A) c.825T>A | |
| 14 | g.87968409A>C | CA487365449 | GALC | c.834T>G (p.Thr278=) c.765T>G (p.Thr255=) c.756T>G (p.Thr252=) n.824T>G n.589T>G c.666T>G (p.Thr222=) c.201T>G (p.Thr67=) c.*232T>G (n.*232T>G) c.824T>G | |
| 14 | g.87968409A>G | CA487365451 | GALC | c.834T>C (p.Thr278=) c.765T>C (p.Thr255=) c.756T>C (p.Thr252=) n.824T>C n.589T>C c.666T>C (p.Thr222=) c.201T>C (p.Thr67=) c.*232T>C (n.*232T>C) c.824T>C | |
| 14 | g.87968409A>T | CA487365453 | GALC | c.834T>A (p.Thr278=) c.765T>A (p.Thr255=) c.756T>A (p.Thr252=) n.824T>A n.589T>A c.666T>A (p.Thr222=) c.201T>A (p.Thr67=) c.*232T>A (n.*232T>A) c.824T>A | |
| 14 | g.87968410G>A | CA390747943 | GALC | c.833C>T (p.Thr278Ile) c.764C>T (p.Thr255Ile) c.755C>T (p.Thr252Ile) n.823C>T n.588C>T c.665C>T (p.Thr222Ile) c.200C>T (p.Thr67Ile) c.*231C>T (n.*231C>T) c.823C>T | gnomAD v4 |
| 14 | g.87968410G>C | CA390747944 | GALC | c.833C>G (p.Thr278Ser) c.764C>G (p.Thr255Ser) c.755C>G (p.Thr252Ser) n.823C>G n.588C>G c.665C>G (p.Thr222Ser) c.200C>G (p.Thr67Ser) c.*231C>G (n.*231C>G) c.823C>G | |
| 14 | g.87968410G>T | CA390747945 | GALC | c.833C>A (p.Thr278Asn) c.764C>A (p.Thr255Asn) c.755C>A (p.Thr252Asn) n.823C>A n.588C>A c.665C>A (p.Thr222Asn) c.200C>A (p.Thr67Asn) c.*231C>A (n.*231C>A) c.823C>A | |
| 14 | g.87968411T>A | CA390747946 | GALC | c.832A>T (p.Thr278Ser) c.763A>T (p.Thr255Ser) c.754A>T (p.Thr252Ser) n.822A>T n.587A>T c.664A>T (p.Thr222Ser) c.199A>T (p.Thr67Ser) c.*230A>T (n.*230A>T) c.822A>T | |
| 14 | g.87968411T>C | CA390747950 | GALC | c.832A>G (p.Thr278Ala) c.763A>G (p.Thr255Ala) c.754A>G (p.Thr252Ala) n.822A>G n.587A>G c.664A>G (p.Thr222Ala) c.199A>G (p.Thr67Ala) c.*230A>G (n.*230A>G) c.822A>G | ClinVar dbSNP |