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.43178184T>A | CA371117284 | HGSNAT | c.962T>A (p.Leu321Ter) c.203T>A (p.Leu68Ter) c.66T>A c.821-3961T>A (n.821-3961T>A) c.98T>A (p.Leu33Ter) | |
| 8 | g.43178184T>C | CA371117287 | HGSNAT | c.962T>C (p.Leu321Ser) c.203T>C (p.Leu68Ser) c.66T>C c.821-3961T>C (n.821-3961T>C) c.98T>C (p.Leu33Ser) | |
| 8 | g.43178184T>G | CA114865 | HGSNAT | c.962T>G (p.Leu321Ter) c.203T>G (p.Leu68Ter) c.66T>G c.821-3961T>G (n.821-3961T>G) c.98T>G (p.Leu33Ter) | ClinVar dbSNP |
| 8 | g.43178184T= | CA1779771420 | HGSNAT | c.962T= (p.Leu321=) c.203T= (p.Leu68=) c.66T= c.821-3961T= (n.821-3961T=) c.98T= (p.Leu33=) | |
| 8 | g.43178185A>C | CA371117289 | HGSNAT | c.963A>C (p.Leu321Phe) c.204A>C (p.Leu68Phe) c.67A>C c.821-3960A>C (n.821-3960A>C) c.99A>C (p.Leu33Phe) | |
| 8 | g.43178185A>G | CA460573313 | HGSNAT | c.963A>G (p.Leu321=) c.204A>G (p.Leu68=) c.67A>G c.821-3960A>G (n.821-3960A>G) c.99A>G (p.Leu33=) | gnomAD v4 |
| 8 | g.43178185A>T | CA371117290 | HGSNAT | c.963A>T (p.Leu321Phe) c.204A>T (p.Leu68Phe) c.67A>T c.821-3960A>T (n.821-3960A>T) c.99A>T (p.Leu33Phe) | |
| 8 | g.43178186A>C | CA371117294 | HGSNAT | c.964A>C (p.Ile322Leu) c.205A>C (p.Ile69Leu) c.68A>C c.821-3959A>C (n.821-3959A>C) c.100A>C (p.Ile34Leu) | |
| 8 | g.43178186A>G | CA371117298 | HGSNAT | c.964A>G (p.Ile322Val) c.205A>G (p.Ile69Val) c.68A>G c.821-3959A>G (n.821-3959A>G) c.100A>G (p.Ile34Val) | |
| 8 | g.43178186A>T | CA371117296 | HGSNAT | c.964A>T (p.Ile322Phe) c.205A>T (p.Ile69Phe) c.68A>T c.821-3959A>T (n.821-3959A>T) c.100A>T (p.Ile34Phe) | |
| 8 | g.43178187T>A | CA371117300 | HGSNAT | c.965T>A (p.Ile322Asn) c.206T>A (p.Ile69Asn) c.69T>A c.821-3958T>A (n.821-3958T>A) c.101T>A (p.Ile34Asn) | |
| 8 | g.43178187T>C | CA371117302 | HGSNAT | c.965T>C (p.Ile322Thr) c.206T>C (p.Ile69Thr) c.69T>C c.821-3958T>C (n.821-3958T>C) c.101T>C (p.Ile34Thr) | |
| 8 | g.43178187T>G | CA371117305 | HGSNAT | c.965T>G (p.Ile322Ser) c.206T>G (p.Ile69Ser) c.69T>G c.821-3958T>G (n.821-3958T>G) c.101T>G (p.Ile34Ser) | |
| 8 | g.43178188C>A | CA460573331 | HGSNAT | c.966C>A (p.Ile322=) c.207C>A (p.Ile69=) c.70C>A c.821-3957C>A (n.821-3957C>A) c.102C>A (p.Ile34=) | |
| 8 | g.43178188C>G | CA371117306 | HGSNAT | c.966C>G (p.Ile322Met) c.207C>G (p.Ile69Met) c.70C>G c.821-3957C>G (n.821-3957C>G) c.102C>G (p.Ile34Met) | |
| 8 | g.43178188C>T | CA460573335 | HGSNAT | c.966C>T (p.Ile322=) c.207C>T (p.Ile69=) c.70C>T c.821-3957C>T (n.821-3957C>T) c.102C>T (p.Ile34=) | COSMIC |
| 8 | g.43178189T>A | CA371117310 | HGSNAT | c.967T>A (p.Cys323Ser) c.208T>A (p.Cys70Ser) c.71T>A c.821-3956T>A (n.821-3956T>A) c.103T>A (p.Cys35Ser) | |
| 8 | g.43178189T>C | CA371117311 | HGSNAT | c.967T>C (p.Cys323Arg) c.208T>C (p.Cys70Arg) c.71T>C c.821-3956T>C (n.821-3956T>C) c.103T>C (p.Cys35Arg) | |
| 8 | g.43178189T>G | CA371117313 | HGSNAT | c.967T>G (p.Cys323Gly) c.208T>G (p.Cys70Gly) c.71T>G c.821-3956T>G (n.821-3956T>G) c.103T>G (p.Cys35Gly) | |
| 8 | g.43178190G>A | CA371117316 | HGSNAT | c.968G>A (p.Cys323Tyr) c.209G>A (p.Cys70Tyr) c.72G>A c.821-3955G>A (n.821-3955G>A) c.104G>A (p.Cys35Tyr) | |
| 8 | g.43178190G>C | CA371117319 | HGSNAT | c.968G>C (p.Cys323Ser) c.209G>C (p.Cys70Ser) c.72G>C c.821-3955G>C (n.821-3955G>C) c.104G>C (p.Cys35Ser) | |
| 8 | g.43178190G>T | CA371117321 | HGSNAT | c.968G>T (p.Cys323Phe) c.209G>T (p.Cys70Phe) c.72G>T c.821-3955G>T (n.821-3955G>T) c.104G>T (p.Cys35Phe) | gnomAD v4 |
| 8 | g.43178191C>A | CA371117323 | HGSNAT | c.969C>A (p.Cys323Ter) c.210C>A (p.Cys70Ter) c.73C>A c.821-3954C>A (n.821-3954C>A) c.105C>A (p.Cys35Ter) | ClinVar gnomAD v4 |
| 8 | g.43178191C>G | CA371117325 | HGSNAT | c.969C>G (p.Cys323Trp) c.210C>G (p.Cys70Trp) c.73C>G c.821-3954C>G (n.821-3954C>G) c.105C>G (p.Cys35Trp) | |
| 8 | g.43178191C>T | CA460573347 | HGSNAT | c.969C>T (p.Cys323=) c.210C>T (p.Cys70=) c.73C>T c.821-3954C>T (n.821-3954C>T) c.105C>T (p.Cys35=) | |
| 8 | g.43178192A= | CA1779771421 | HGSNAT | c.970A= (p.Ile324=) c.211A= (p.Ile71=) c.74A= c.821-3953A= (n.821-3953A=) c.106A= (p.Ile36=) | |
| 8 | g.43178192A>C | CA371117326 | HGSNAT | c.970A>C (p.Ile324Leu) c.211A>C (p.Ile71Leu) c.74A>C c.821-3953A>C (n.821-3953A>C) c.106A>C (p.Ile36Leu) | gnomAD v4 |
| 8 | g.43178192A>G | CA4736690 | HGSNAT | c.970A>G (p.Ile324Val) c.211A>G (p.Ile71Val) c.74A>G c.821-3953A>G (n.821-3953A>G) c.106A>G (p.Ile36Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43178192A>T | CA176068214 | HGSNAT | c.970A>T (p.Ile324Leu) c.211A>T (p.Ile71Leu) c.74A>T c.821-3953A>T (n.821-3953A>T) c.106A>T (p.Ile36Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43178193T>A | CA4736691 | HGSNAT | c.971T>A (p.Ile324Lys) c.212T>A (p.Ile71Lys) c.75T>A c.821-3952T>A (n.821-3952T>A) c.107T>A (p.Ile36Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43178193T>C | CA371117329 | HGSNAT | c.971T>C (p.Ile324Thr) c.212T>C (p.Ile71Thr) c.75T>C c.821-3952T>C (n.821-3952T>C) c.107T>C (p.Ile36Thr) | gnomAD v4 |
| 8 | g.43178193T>G | CA371117331 | HGSNAT | c.971T>G (p.Ile324Arg) c.212T>G (p.Ile71Arg) c.75T>G c.821-3952T>G (n.821-3952T>G) c.107T>G (p.Ile36Arg) | |
| 8 | g.43178193T= | CA1779771422 | HGSNAT | c.971T= (p.Ile324=) c.212T= (p.Ile71=) c.75T= c.821-3952T= (n.821-3952T=) c.107T= (p.Ile36=) | |
| 8 | g.43178194A= | CA1779771423 | HGSNAT | c.972A= (p.Ile324=) c.213A= (p.Ile71=) c.76A= c.821-3951A= (n.821-3951A=) c.108A= (p.Ile36=) | |
| 8 | g.43178194A>C | CA460573365 | HGSNAT | c.972A>C (p.Ile324=) c.213A>C (p.Ile71=) c.76A>C c.821-3951A>C (n.821-3951A>C) c.108A>C (p.Ile36=) | |
| 8 | g.43178194A>G | CA371117333 | HGSNAT | c.972A>G (p.Ile324Met) c.213A>G (p.Ile71Met) c.76A>G c.821-3951A>G (n.821-3951A>G) c.108A>G (p.Ile36Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43178194A>T | CA460573379 | HGSNAT | c.972A>T (p.Ile324=) c.213A>T (p.Ile71=) c.76A>T c.821-3951A>T (n.821-3951A>T) c.108A>T (p.Ile36=) | |
| 8 | g.43178195G>A | CA176068218 | HGSNAT | c.973G>A (p.Gly325Arg) c.214G>A (p.Gly72Arg) c.77G>A c.821-3950G>A (n.821-3950G>A) c.109G>A (p.Gly37Arg) | dbSNP gnomAD v4 |
| 8 | g.43178195G>C | CA371117337 | HGSNAT | c.973G>C (p.Gly325Arg) c.214G>C (p.Gly72Arg) c.77G>C c.821-3950G>C (n.821-3950G>C) c.109G>C (p.Gly37Arg) | |
| 8 | g.43178195G= | CA1779771424 | HGSNAT | c.973G= (p.Gly325=) c.214G= (p.Gly72=) c.77G= c.821-3950G= (n.821-3950G=) c.109G= (p.Gly37=) | |
| 8 | g.43178195G>T | CA371117340 | HGSNAT | c.973G>T (p.Gly325Ter) c.214G>T (p.Gly72Ter) c.77G>T c.821-3950G>T (n.821-3950G>T) c.109G>T (p.Gly37Ter) | |
| 8 | g.43178196del | CA2687154614 | HGSNAT | c.974del (p.Gly325GlufsTer5) c.215del (p.Gly72GlufsTer5) c.78del c.821-3949del (n.821-3949del) c.110del (p.Gly37GlufsTer5) | gnomAD v4 |
| 8 | g.43178196G>A | CA4736692 | HGSNAT | c.974G>A (p.Gly325Glu) c.215G>A (p.Gly72Glu) c.78G>A c.821-3949G>A (n.821-3949G>A) c.110G>A (p.Gly37Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43178196G>C | CA371117342 | HGSNAT | c.974G>C (p.Gly325Ala) c.215G>C (p.Gly72Ala) c.78G>C c.821-3949G>C (n.821-3949G>C) c.110G>C (p.Gly37Ala) | |
| 8 | g.43178196G= | CA1779771425 | HGSNAT | c.974G= (p.Gly325=) c.215G= (p.Gly72=) c.78G= c.821-3949G= (n.821-3949G=) c.110G= (p.Gly37=) | |
| 8 | g.43178196G>T | CA371117345 | HGSNAT | c.974G>T (p.Gly325Val) c.215G>T (p.Gly72Val) c.78G>T c.821-3949G>T (n.821-3949G>T) c.110G>T (p.Gly37Val) | |
| 8 | g.43178197A>C | CA460573394 | HGSNAT | c.975A>C (p.Gly325=) c.216A>C (p.Gly72=) c.79A>C c.821-3948A>C (n.821-3948A>C) c.111A>C (p.Gly37=) | |
| 8 | g.43178197A>G | CA460573397 | HGSNAT | c.975A>G (p.Gly325=) c.216A>G (p.Gly72=) c.79A>G c.821-3948A>G (n.821-3948A>G) c.111A>G (p.Gly37=) | |
| 8 | g.43178197A>T | CA460573399 | HGSNAT | c.975A>T (p.Gly325=) c.216A>T (p.Gly72=) c.79A>T c.821-3948A>T (n.821-3948A>T) c.111A>T (p.Gly37=) | |
| 8 | g.43178198A>C | CA371117352 | HGSNAT | c.976A>C (p.Ile326Leu) c.217A>C (p.Ile73Leu) c.80A>C c.821-3947A>C (n.821-3947A>C) c.112A>C (p.Ile38Leu) |