Allele Registry

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.

Canonical Allele Identifier: CA1028982717

Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs893801672

gnomAD v3: 2-31612316-G-A

gnomAD v4: 2-31612316-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31612316G>A , CM000664.2:g.31612316G>A	GRCh38
NC_000002.11:g.31837385G>A , CM000664.1:g.31837385G>A	GRCh37
NC_000002.10:g.31690889G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011533070.1:c.26+34002C>T	XP_011531372.1:n.26+34002C>T
XM_011533071.1:c.26+34002C>T	XP_011531373.1:n.26+34002C>T
XM_011533072.1:c.26+34002C>T	XP_011531374.1:n.26+34002C>T
XM_011533072.2:c.26+34002C>T	XP_011531374.1:n.26+34002C>T

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