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.87968334C>A | CA390747679 | GALC | c.908+1G>T (n.908+1G>T) c.839+1G>T (n.839+1G>T) c.830+1G>T (n.830+1G>T) n.898+1G>T c.740+1G>T (n.740+1G>T) c.275+1G>T (n.275+1G>T) c.*306+1G>T (n.*306+1G>T) c.898+1G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87968334C= | CA2153346431 | GALC | c.908+1G= (n.908+1G=) c.839+1G= (n.839+1G=) c.830+1G= (n.830+1G=) n.898+1G= c.740+1G= (n.740+1G=) c.275+1G= (n.275+1G=) c.*306+1G= (n.*306+1G=) c.898+1G= | |
| 14 | g.87968334C>G | CA390747680 | GALC | c.908+1G>C (n.908+1G>C) c.839+1G>C (n.839+1G>C) c.830+1G>C (n.830+1G>C) n.898+1G>C c.740+1G>C (n.740+1G>C) c.275+1G>C (n.275+1G>C) c.*306+1G>C (n.*306+1G>C) c.898+1G>C | |
| 14 | g.87968334C>T | CA273993 | GALC | c.908+1G>A (n.908+1G>A) c.839+1G>A (n.839+1G>A) c.830+1G>A (n.830+1G>A) n.898+1G>A c.740+1G>A (n.740+1G>A) c.275+1G>A (n.275+1G>A) c.*306+1G>A (n.*306+1G>A) c.898+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968334_87968335insA | CA2625980273 | GALC | c.908_908+1insT (n.908_908+1insT) c.839_839+1insT (n.839_839+1insT) c.830_830+1insT (n.830_830+1insT) n.898_898+1insT c.740_740+1insT (n.740_740+1insT) c.275_275+1insT (n.275_275+1insT) c.*306_*306+1insT (n.*306_*306+1insT) c.898_898+1insT | gnomAD v4 |
| 14 | g.87968335G>A | CA7297219 | GALC | c.908C>T (p.Ser303Phe) c.839C>T (p.Ser280Phe) c.830C>T (p.Ser277Phe) n.898C>T c.740C>T (p.Ser247Phe) c.275C>T (p.Ser92Phe) c.*306C>T (n.*306C>T) c.898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.87968335G>C | CA390747681 | GALC | c.908C>G (p.Ser303Cys) c.839C>G (p.Ser280Cys) c.830C>G (p.Ser277Cys) n.898C>G c.740C>G (p.Ser247Cys) c.275C>G (p.Ser92Cys) c.*306C>G (n.*306C>G) c.898C>G | |
| 14 | g.87968335G= | CA2153346432 | GALC | c.908C= (p.Ser303=) c.839C= (p.Ser280=) c.830C= (p.Ser277=) n.898C= c.740C= (p.Ser247=) c.275C= (p.Ser92=) c.*306C= (n.*306C=) c.898C= | |
| 14 | g.87968335G>T | CA390747682 | GALC | c.908C>A (p.Ser303Tyr) c.839C>A (p.Ser280Tyr) c.830C>A (p.Ser277Tyr) n.898C>A c.740C>A (p.Ser247Tyr) c.275C>A (p.Ser92Tyr) c.*306C>A (n.*306C>A) c.898C>A | dbSNP |
| 14 | g.87968336A>C | CA390747683 | GALC | c.907T>G (p.Ser303Ala) c.838T>G (p.Ser280Ala) c.829T>G (p.Ser277Ala) n.897T>G c.739T>G (p.Ser247Ala) c.274T>G (p.Ser92Ala) c.*305T>G (n.*305T>G) c.897T>G | |
| 14 | g.87968336A>G | CA390747684 | GALC | c.907T>C (p.Ser303Pro) c.838T>C (p.Ser280Pro) c.829T>C (p.Ser277Pro) n.897T>C c.739T>C (p.Ser247Pro) c.274T>C (p.Ser92Pro) c.*305T>C (n.*305T>C) c.897T>C | |
| 14 | g.87968336A>T | CA390747685 | GALC | c.907T>A (p.Ser303Thr) c.838T>A (p.Ser280Thr) c.829T>A (p.Ser277Thr) n.897T>A c.739T>A (p.Ser247Thr) c.274T>A (p.Ser92Thr) c.*305T>A (n.*305T>A) c.897T>A | |
| 14 | g.87968337A>C | CA487365178 | GALC | c.906T>G (p.Thr302=) c.837T>G (p.Thr279=) c.828T>G (p.Thr276=) n.896T>G c.738T>G (p.Thr246=) c.273T>G (p.Thr91=) c.*304T>G (n.*304T>G) c.896T>G | |
| 14 | g.87968337A>G | CA487365180 | GALC | c.906T>C (p.Thr302=) c.837T>C (p.Thr279=) c.828T>C (p.Thr276=) n.896T>C c.738T>C (p.Thr246=) c.273T>C (p.Thr91=) c.*304T>C (n.*304T>C) c.896T>C | |
| 14 | g.87968337A>T | CA487365182 | GALC | c.906T>A (p.Thr302=) c.837T>A (p.Thr279=) c.828T>A (p.Thr276=) n.896T>A c.738T>A (p.Thr246=) c.273T>A (p.Thr91=) c.*304T>A (n.*304T>A) c.896T>A | |
| 14 | g.87968338G>A | CA390747686 | GALC | c.905C>T (p.Thr302Ile) c.836C>T (p.Thr279Ile) c.827C>T (p.Thr276Ile) n.895C>T c.737C>T (p.Thr246Ile) c.272C>T (p.Thr91Ile) c.*303C>T (n.*303C>T) c.895C>T | ClinVar |
| 14 | g.87968338G>C | CA390747688 | GALC | c.905C>G (p.Thr302Ser) c.836C>G (p.Thr279Ser) c.827C>G (p.Thr276Ser) n.895C>G c.737C>G (p.Thr246Ser) c.272C>G (p.Thr91Ser) c.*303C>G (n.*303C>G) c.895C>G | |
| 14 | g.87968338G>T | CA390747687 | GALC | c.905C>A (p.Thr302Asn) c.836C>A (p.Thr279Asn) c.827C>A (p.Thr276Asn) n.895C>A c.737C>A (p.Thr246Asn) c.272C>A (p.Thr91Asn) c.*303C>A (n.*303C>A) c.895C>A | |
| 14 | g.87968339T>A | CA390747689 | GALC | c.904A>T (p.Thr302Ser) c.835A>T (p.Thr279Ser) c.826A>T (p.Thr276Ser) n.894A>T c.736A>T (p.Thr246Ser) c.271A>T (p.Thr91Ser) c.*302A>T (n.*302A>T) c.894A>T | gnomAD v4 |
| 14 | g.87968339T>C | CA390747690 | GALC | c.904A>G (p.Thr302Ala) c.835A>G (p.Thr279Ala) c.826A>G (p.Thr276Ala) n.894A>G c.736A>G (p.Thr246Ala) c.271A>G (p.Thr91Ala) c.*302A>G (n.*302A>G) c.894A>G | |
| 14 | g.87968339T>G | CA390747691 | GALC | c.904A>C (p.Thr302Pro) c.835A>C (p.Thr279Pro) c.826A>C (p.Thr276Pro) n.894A>C c.736A>C (p.Thr246Pro) c.271A>C (p.Thr91Pro) c.*302A>C (n.*302A>C) c.894A>C | |
| 14 | g.87968340C>A | CA390747692 | GALC | c.903G>T (p.Met301Ile) c.834G>T (p.Met278Ile) c.825G>T (p.Met275Ile) n.893G>T c.735G>T (p.Met245Ile) c.270G>T (p.Met90Ile) c.*301G>T (n.*301G>T) c.893G>T | |
| 14 | g.87968340C= | CA2153346433 | GALC | c.903G= (p.Met301=) c.834G= (p.Met278=) c.825G= (p.Met275=) n.893G= c.735G= (p.Met245=) c.270G= (p.Met90=) c.*301G= (n.*301G=) c.893G= | |
| 14 | g.87968340C>G | CA390747693 | GALC | c.903G>C (p.Met301Ile) c.834G>C (p.Met278Ile) c.825G>C (p.Met275Ile) n.893G>C c.735G>C (p.Met245Ile) c.270G>C (p.Met90Ile) c.*301G>C (n.*301G>C) c.893G>C | |
| 14 | g.87968340C>T | CA7297220 | GALC | c.903G>A (p.Met301Ile) c.834G>A (p.Met278Ile) c.825G>A (p.Met275Ile) n.893G>A c.735G>A (p.Met245Ile) c.270G>A (p.Met90Ile) c.*301G>A (n.*301G>A) c.893G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.87968341A>C | CA390747694 | GALC | c.902T>G (p.Met301Arg) c.833T>G (p.Met278Arg) c.824T>G (p.Met275Arg) n.892T>G c.734T>G (p.Met245Arg) c.269T>G (p.Met90Arg) c.*300T>G (n.*300T>G) c.892T>G | |
| 14 | g.87968341A>G | CA390747695 | GALC | c.902T>C (p.Met301Thr) c.833T>C (p.Met278Thr) c.824T>C (p.Met275Thr) n.892T>C c.734T>C (p.Met245Thr) c.269T>C (p.Met90Thr) c.*300T>C (n.*300T>C) c.892T>C | |
| 14 | g.87968341A>T | CA390747696 | GALC | c.902T>A (p.Met301Lys) c.833T>A (p.Met278Lys) c.824T>A (p.Met275Lys) n.892T>A c.734T>A (p.Met245Lys) c.269T>A (p.Met90Lys) c.*300T>A (n.*300T>A) c.892T>A | |
| 14 | g.87968342T>A | CA390747697 | GALC | c.901A>T (p.Met301Leu) c.832A>T (p.Met278Leu) c.823A>T (p.Met275Leu) n.891A>T c.733A>T (p.Met245Leu) c.268A>T (p.Met90Leu) c.*299A>T (n.*299A>T) c.891A>T | |
| 14 | g.87968342T>C | CA390747698 | GALC | c.901A>G (p.Met301Val) c.832A>G (p.Met278Val) c.823A>G (p.Met275Val) n.891A>G c.733A>G (p.Met245Val) c.268A>G (p.Met90Val) c.*299A>G (n.*299A>G) c.891A>G | gnomAD v4 |
| 14 | g.87968342T>G | CA390747699 | GALC | c.901A>C (p.Met301Leu) c.832A>C (p.Met278Leu) c.823A>C (p.Met275Leu) n.891A>C c.733A>C (p.Met245Leu) c.268A>C (p.Met90Leu) c.*299A>C (n.*299A>C) c.891A>C | |
| 14 | g.87968343A>C | CA390747700 | GALC | c.900T>G (p.Tyr300Ter) c.831T>G (p.Tyr277Ter) c.822T>G (p.Tyr274Ter) n.890T>G c.732T>G (p.Tyr244Ter) c.267T>G (p.Tyr89Ter) c.*298T>G (n.*298T>G) c.890T>G | |
| 14 | g.87968343A>G | CA487365201 | GALC | c.900T>C (p.Tyr300=) c.831T>C (p.Tyr277=) c.822T>C (p.Tyr274=) n.890T>C c.732T>C (p.Tyr244=) c.267T>C (p.Tyr89=) c.*298T>C (n.*298T>C) c.890T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968343A>T | CA390747701 | GALC | c.900T>A (p.Tyr300Ter) c.831T>A (p.Tyr277Ter) c.822T>A (p.Tyr274Ter) n.890T>A c.732T>A (p.Tyr244Ter) c.267T>A (p.Tyr89Ter) c.*298T>A (n.*298T>A) c.890T>A | |
| 14 | g.87968344T>A | CA390747704 | GALC | c.899A>T (p.Tyr300Phe) c.830A>T (p.Tyr277Phe) c.821A>T (p.Tyr274Phe) n.889A>T c.731A>T (p.Tyr244Phe) c.266A>T (p.Tyr89Phe) c.*297A>T (n.*297A>T) c.889A>T | |
| 14 | g.87968344T>C | CA390747703 | GALC | c.899A>G (p.Tyr300Cys) c.830A>G (p.Tyr277Cys) c.821A>G (p.Tyr274Cys) n.889A>G c.731A>G (p.Tyr244Cys) c.266A>G (p.Tyr89Cys) c.*297A>G (n.*297A>G) c.889A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87968344T>G | CA390747702 | GALC | c.899A>C (p.Tyr300Ser) c.830A>C (p.Tyr277Ser) c.821A>C (p.Tyr274Ser) n.889A>C c.731A>C (p.Tyr244Ser) c.266A>C (p.Tyr89Ser) c.*297A>C (n.*297A>C) c.889A>C | |
| 14 | g.87968344T= | CA2153346434 | GALC | c.899A= (p.Tyr300=) c.830A= (p.Tyr277=) c.821A= (p.Tyr274=) n.889A= c.731A= (p.Tyr244=) c.266A= (p.Tyr89=) c.*297A= (n.*297A=) c.889A= | |
| 14 | g.87968345A>C | CA390747705 | GALC | c.898T>G (p.Tyr300Asp) c.829T>G (p.Tyr277Asp) c.820T>G (p.Tyr274Asp) n.888T>G c.730T>G (p.Tyr244Asp) c.265T>G (p.Tyr89Asp) c.*296T>G (n.*296T>G) c.888T>G | |
| 14 | g.87968345A>G | CA390747706 | GALC | c.898T>C (p.Tyr300His) c.829T>C (p.Tyr277His) c.820T>C (p.Tyr274His) n.888T>C c.730T>C (p.Tyr244His) c.265T>C (p.Tyr89His) c.*296T>C (n.*296T>C) c.888T>C | |
| 14 | g.87968345A>T | CA390747707 | GALC | c.898T>A (p.Tyr300Asn) c.829T>A (p.Tyr277Asn) c.820T>A (p.Tyr274Asn) n.888T>A c.730T>A (p.Tyr244Asn) c.265T>A (p.Tyr89Asn) c.*296T>A (n.*296T>A) c.888T>A | |
| 14 | g.87968346G>A | CA487365208 | GALC | c.897C>T (p.Gly299=) c.828C>T (p.Gly276=) c.819C>T (p.Gly273=) n.887C>T c.729C>T (p.Gly243=) c.264C>T (p.Gly88=) c.*295C>T (n.*295C>T) c.887C>T | |
| 14 | g.87968346G>C | CA487365212 | GALC | c.897C>G (p.Gly299=) c.828C>G (p.Gly276=) c.819C>G (p.Gly273=) n.887C>G c.729C>G (p.Gly243=) c.264C>G (p.Gly88=) c.*295C>G (n.*295C>G) c.887C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968346G>T | CA487365210 | GALC | c.897C>A (p.Gly299=) c.828C>A (p.Gly276=) c.819C>A (p.Gly273=) n.887C>A c.729C>A (p.Gly243=) c.264C>A (p.Gly88=) c.*295C>A (n.*295C>A) c.887C>A | |
| 14 | g.87968346_87968347delinsCT | CA2573150263 | GALC | c.896_897delinsAG (p.Gly299Glu) c.827_828delinsAG (p.Gly276Glu) c.818_819delinsAG (p.Gly273Glu) n.886_887delinsAG c.728_729delinsAG (p.Gly243Glu) c.263_264delinsAG (p.Gly88Glu) c.*294_*295delinsAG (n.*294_*295delinsAG) c.886_887delinsAG | ClinVar dbSNP |
| 14 | g.87968347C>A | CA390747708 | GALC | c.896G>T (p.Gly299Val) c.827G>T (p.Gly276Val) c.818G>T (p.Gly273Val) n.886G>T c.728G>T (p.Gly243Val) c.263G>T (p.Gly88Val) c.*294G>T (n.*294G>T) c.886G>T | |
| 14 | g.87968347C= | CA2153346435 | GALC | c.896G= (p.Gly299=) c.827G= (p.Gly276=) c.818G= (p.Gly273=) n.886G= c.728G= (p.Gly243=) c.263G= (p.Gly88=) c.*294G= (n.*294G=) c.886G= | |
| 14 | g.87968347C>G | CA390747709 | GALC | c.896G>C (p.Gly299Ala) c.827G>C (p.Gly276Ala) c.818G>C (p.Gly273Ala) n.886G>C c.728G>C (p.Gly243Ala) c.263G>C (p.Gly88Ala) c.*294G>C (n.*294G>C) c.886G>C | |
| 14 | g.87968347C>T | CA390747710 | GALC | c.896G>A (p.Gly299Asp) c.827G>A (p.Gly276Asp) c.818G>A (p.Gly273Asp) n.886G>A c.728G>A (p.Gly243Asp) c.263G>A (p.Gly88Asp) c.*294G>A (n.*294G>A) c.886G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968348C>A | CA390747711 | GALC | c.895G>T (p.Gly299Cys) c.826G>T (p.Gly276Cys) c.817G>T (p.Gly273Cys) n.885G>T c.727G>T (p.Gly243Cys) c.262G>T (p.Gly88Cys) c.*293G>T (n.*293G>T) c.885G>T |