WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43178084A>C | CA371116878 | HGSNAT | c.862A>C (p.Ile288Leu) c.103A>C (p.Ile35Leu) c.821-4061A>C (n.821-4061A>C) c.-3A>C (n.-3A>C) | |
| 8 | g.43178084A>G | CA371116875 | HGSNAT | c.862A>G (p.Ile288Val) c.103A>G (p.Ile35Val) c.821-4061A>G (n.821-4061A>G) c.-3A>G (n.-3A>G) | gnomAD v4 |
| 8 | g.43178084A>T | CA371116877 | HGSNAT | c.862A>T (p.Ile288Phe) c.103A>T (p.Ile35Phe) c.821-4061A>T (n.821-4061A>T) c.-3A>T (n.-3A>T) | |
| 8 | g.43178085T>A | CA371116880 | HGSNAT | c.863T>A (p.Ile288Asn) c.104T>A (p.Ile35Asn) c.821-4060T>A (n.821-4060T>A) c.-2T>A (n.-2T>A) | |
| 8 | g.43178085T>C | CA371116881 | HGSNAT | c.863T>C (p.Ile288Thr) c.104T>C (p.Ile35Thr) c.821-4060T>C (n.821-4060T>C) c.-2T>C (n.-2T>C) | gnomAD v4 |
| 8 | g.43178085T>G | CA371116882 | HGSNAT | c.863T>G (p.Ile288Ser) c.104T>G (p.Ile35Ser) c.821-4060T>G (n.821-4060T>G) c.-2T>G (n.-2T>G) | |
| 8 | g.43178086del | CA645545456 | HGSNAT | c.864del (p.Met289TrpfsTer9) c.105del (p.Met36TrpfsTer9) c.821-4059del (n.821-4059del) c.-1del (n.-1del) | COSMIC |
| 8 | g.43178086T>A | CA460572595 | HGSNAT | c.864T>A (p.Ile288=) c.105T>A (p.Ile35=) c.821-4059T>A (n.821-4059T>A) c.-1T>A (n.-1T>A) | |
| 8 | g.43178086T>C | CA460572597 | HGSNAT | c.864T>C (p.Ile288=) c.105T>C (p.Ile35=) c.821-4059T>C (n.821-4059T>C) c.-1T>C (n.-1T>C) | gnomAD v4 |
| 8 | g.43178086T>G | CA371116883 | HGSNAT | c.864T>G (p.Ile288Met) c.105T>G (p.Ile35Met) c.821-4059T>G (n.821-4059T>G) c.-1T>G (n.-1T>G) | |
| 8 | g.43178087A= | CA1779771381 | HGSNAT | c.865A= (p.Met289=) c.106A= (p.Met36=) c.821-4058A= (n.821-4058A=) c.1A= (p.Met1=) | |
| 8 | g.43178087A>C | CA371116885 | HGSNAT | c.865A>C (p.Met289Leu) c.106A>C (p.Met36Leu) c.821-4058A>C (n.821-4058A>C) c.1A>C (p.Met1Leu) | |
| 8 | g.43178087A>G | CA371116886 | HGSNAT | c.865A>G (p.Met289Val) c.106A>G (p.Met36Val) c.821-4058A>G (n.821-4058A>G) c.1A>G (p.Met1Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43178087A>T | CA371116887 | HGSNAT | c.865A>T (p.Met289Leu) c.106A>T (p.Met36Leu) c.821-4058A>T (n.821-4058A>T) c.1A>T (p.Met1Leu) | |
| 8 | g.43178088T>A | CA371116888 | HGSNAT | c.866T>A (p.Met289Lys) c.107T>A (p.Met36Lys) c.821-4057T>A (n.821-4057T>A) c.2T>A (p.Met1Lys) | |
| 8 | g.43178088T>C | CA371116890 | HGSNAT | c.866T>C (p.Met289Thr) c.107T>C (p.Met36Thr) c.821-4057T>C (n.821-4057T>C) c.2T>C (p.Met1Thr) | gnomAD v4 |
| 8 | g.43178088T>G | CA371116891 | HGSNAT | c.866T>G (p.Met289Arg) c.107T>G (p.Met36Arg) c.821-4057T>G (n.821-4057T>G) c.2T>G (p.Met1Arg) | |
| 8 | g.43178089G>A | CA371116895 | HGSNAT | c.867G>A (p.Met289Ile) c.108G>A (p.Met36Ile) c.821-4056G>A (n.821-4056G>A) c.3G>A (p.Met1Ile) | |
| 8 | g.43178089G>C | CA371116896 | HGSNAT | c.867G>C (p.Met289Ile) c.108G>C (p.Met36Ile) c.821-4056G>C (n.821-4056G>C) c.3G>C (p.Met1Ile) | |
| 8 | g.43178089G>T | CA371116893 | HGSNAT | c.867G>T (p.Met289Ile) c.108G>T (p.Met36Ile) c.821-4056G>T (n.821-4056G>T) c.3G>T (p.Met1Ile) | |
| 8 | g.43178090G>A | CA371116898 | HGSNAT | c.868G>A (p.Gly290Arg) c.109G>A (p.Gly37Arg) c.821-4055G>A (n.821-4055G>A) c.4G>A (p.Gly2Arg) | |
| 8 | g.43178090G>C | CA371116900 | HGSNAT | c.868G>C (p.Gly290Arg) c.109G>C (p.Gly37Arg) c.821-4055G>C (n.821-4055G>C) c.4G>C (p.Gly2Arg) | |
| 8 | g.43178090G>T | CA371116902 | HGSNAT | c.868G>T (p.Gly290Ter) c.109G>T (p.Gly37Ter) c.821-4055G>T (n.821-4055G>T) c.4G>T (p.Gly2Ter) | |
| 8 | g.43178091G>A | CA371116903 | HGSNAT | c.869G>A (p.Gly290Glu) c.110G>A (p.Gly37Glu) c.821-4054G>A (n.821-4054G>A) c.5G>A (p.Gly2Glu) | |
| 8 | g.43178091G>C | CA371116904 | HGSNAT | c.869G>C (p.Gly290Ala) c.110G>C (p.Gly37Ala) c.821-4054G>C (n.821-4054G>C) c.5G>C (p.Gly2Ala) | |
| 8 | g.43178091G>T | CA371116906 | HGSNAT | c.869G>T (p.Gly290Val) c.110G>T (p.Gly37Val) c.821-4054G>T (n.821-4054G>T) c.5G>T (p.Gly2Val) | |
| 8 | g.43178092A>C | CA460572634 | HGSNAT | c.870A>C (p.Gly290=) c.111A>C (p.Gly37=) c.821-4053A>C (n.821-4053A>C) c.6A>C (p.Gly2=) | |
| 8 | g.43178092A>G | CA460572638 | HGSNAT | c.870A>G (p.Gly290=) c.111A>G (p.Gly37=) c.821-4053A>G (n.821-4053A>G) c.6A>G (p.Gly2=) | |
| 8 | g.43178092A>T | CA460572636 | HGSNAT | c.870A>T (p.Gly290=) c.111A>T (p.Gly37=) c.821-4053A>T (n.821-4053A>T) c.6A>T (p.Gly2=) | |
| 8 | g.43178093T>A | CA4736676 | HGSNAT | c.871T>A (p.Ser291Thr) c.112T>A (p.Ser38Thr) c.821-4052T>A (n.821-4052T>A) c.7T>A (p.Ser3Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43178093T>C | CA371116908 | HGSNAT | c.871T>C (p.Ser291Pro) c.112T>C (p.Ser38Pro) c.821-4052T>C (n.821-4052T>C) c.7T>C (p.Ser3Pro) | |
| 8 | g.43178093T>G | CA371116910 | HGSNAT | c.871T>G (p.Ser291Ala) c.112T>G (p.Ser38Ala) c.821-4052T>G (n.821-4052T>G) c.7T>G (p.Ser3Ala) | |
| 8 | g.43178093T= | CA1779771382 | HGSNAT | c.871T= (p.Ser291=) c.112T= (p.Ser38=) c.821-4052T= (n.821-4052T=) c.7T= (p.Ser3=) | |
| 8 | g.43178094C>A | CA371116911 | HGSNAT | c.872C>A (p.Ser291Tyr) c.113C>A (p.Ser38Tyr) c.821-4051C>A (n.821-4051C>A) c.8C>A (p.Ser3Tyr) | |
| 8 | g.43178094C>G | CA371116912 | HGSNAT | c.872C>G (p.Ser291Cys) c.113C>G (p.Ser38Cys) c.821-4051C>G (n.821-4051C>G) c.8C>G (p.Ser3Cys) | |
| 8 | g.43178094C>T | CA371116914 | HGSNAT | c.872C>T (p.Ser291Phe) c.113C>T (p.Ser38Phe) c.821-4051C>T (n.821-4051C>T) c.8C>T (p.Ser3Phe) | |
| 8 | g.43178095T>A | CA460572655 | HGSNAT | c.873T>A (p.Ser291=) c.114T>A (p.Ser38=) c.821-4050T>A (n.821-4050T>A) c.9T>A (p.Ser3=) | |
| 8 | g.43178095T>C | CA460572658 | HGSNAT | c.873T>C (p.Ser291=) c.114T>C (p.Ser38=) c.821-4050T>C (n.821-4050T>C) c.9T>C (p.Ser3=) | dbSNP |
| 8 | g.43178095T>G | CA460572661 | HGSNAT | c.873T>G (p.Ser291=) c.114T>G (p.Ser38=) c.821-4050T>G (n.821-4050T>G) c.9T>G (p.Ser3=) | |
| 8 | g.43178095T= | CA1779771383 | HGSNAT | c.873T= (p.Ser291=) c.114T= (p.Ser38=) c.821-4050T= (n.821-4050T=) c.9T= (p.Ser3=) | |
| 8 | g.43178096T>A | CA371116918 | HGSNAT | c.874T>A (p.Ser292Thr) c.115T>A (p.Ser39Thr) c.821-4049T>A (n.821-4049T>A) c.10T>A (p.Ser4Thr) | |
| 8 | g.43178096T>C | CA371116919 | HGSNAT | c.874T>C (p.Ser292Pro) c.115T>C (p.Ser39Pro) c.821-4049T>C (n.821-4049T>C) c.10T>C (p.Ser4Pro) | |
| 8 | g.43178096T>G | CA371116916 | HGSNAT | c.874T>G (p.Ser292Ala) c.115T>G (p.Ser39Ala) c.821-4049T>G (n.821-4049T>G) c.10T>G (p.Ser4Ala) | |
| 8 | g.43178097C>A | CA371116921 | HGSNAT | c.875C>A (p.Ser292Tyr) c.116C>A (p.Ser39Tyr) c.821-4048C>A (n.821-4048C>A) c.11C>A (p.Ser4Tyr) | |
| 8 | g.43178097C= | CA1779771384 | HGSNAT | c.875C= (p.Ser292=) c.116C= (p.Ser39=) c.821-4048C= (n.821-4048C=) c.11C= (p.Ser4=) | |
| 8 | g.43178097C>G | CA371116923 | HGSNAT | c.875C>G (p.Ser292Cys) c.116C>G (p.Ser39Cys) c.821-4048C>G (n.821-4048C>G) c.11C>G (p.Ser4Cys) | |
| 8 | g.43178097C>T | CA176068184 | HGSNAT | c.875C>T (p.Ser292Phe) c.116C>T (p.Ser39Phe) c.821-4048C>T (n.821-4048C>T) c.11C>T (p.Ser4Phe) | dbSNP COSMIC |
| 8 | g.43178098C>A | CA460572676 | HGSNAT | c.876C>A (p.Ser292=) c.117C>A (p.Ser39=) c.821-4047C>A (n.821-4047C>A) c.12C>A (p.Ser4=) | |
| 8 | g.43178098C>G | CA460572678 | HGSNAT | c.876C>G (p.Ser292=) c.117C>G (p.Ser39=) c.821-4047C>G (n.821-4047C>G) c.12C>G (p.Ser4=) | |
| 8 | g.43178098C>T | CA460572680 | HGSNAT | c.876C>T (p.Ser292=) c.117C>T (p.Ser39=) c.821-4047C>T (n.821-4047C>T) c.12C>T (p.Ser4=) |