Canonical Allele Identifier: CA1599962
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs372211049
gnomAD v2: 2-31758790-T-C
gnomAD v3: 2-31533720-T-C
gnomAD v4: 2-31533720-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533720T>C , CM000664.2:g.31533720T>C GRCh38
NC_000002.11:g.31758790T>C , CM000664.1:g.31758790T>C GRCh37
NC_000002.10:g.31612294T>C NCBI36
NG_008365.1:g.52252A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.328A>G MANE Select ENSP00000477587.1:p.Ile110Val
ENST00000622030.1:c.328A>G ENSP00000477587.1:p.Ile110Val
NM_000348.3:c.328A>G NP_000339.2:p.Ile110Val
XM_011533068.1:c.328A>G XP_011531370.1:p.Ile110Val
XM_011533069.1:c.106A>G XP_011531371.1:p.Ile36Val
XM_011533070.1:c.73A>G XP_011531372.1:p.Ile25Val
XM_011533071.1:c.73A>G XP_011531373.1:p.Ile25Val
XM_011533072.1:c.73A>G XP_011531374.1:p.Ile25Val
XM_011533069.2:c.106A>G XP_011531371.1:p.Ile36Val
XM_011533072.2:c.73A>G XP_011531374.1:p.Ile25Val
NM_000348.4:c.328A>G MANE Select NP_000339.2:p.Ile110Val