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.
Canonical Allele Identifier:
CA2470001216
Gene:
Linked Data
dbSNP Id:
rs1603117124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8606192C>T , CM000686.2:g.8606192C>T | GRCh38 |
| NC_000024.9:g.8474233C>T , CM000686.1:g.8474233C>T | GRCh37 |
| NC_000024.8:g.8534233C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624507.1:c.53-1161G>A | ENSP00000485522.1:n.53-1161G>A | |
| ENST00000624593.1:c.92+16660G>A | ENSP00000485106.1:n.92+16660G>A |