Canonical Allele Identifier: CA1599952
Gene: SRD5A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372519
dbSNP Id: rs368386747

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533671T>C , CM000664.2:g.31533671T>C GRCh38
NC_000002.11:g.31758741T>C , CM000664.1:g.31758741T>C GRCh37
NC_000002.10:g.31612245T>C NCBI36
NG_008365.1:g.52301A>G

Transcript Alleles

HGVS Amino-acid change
NM_000348.3:c.377A>G VV NP_000339.2:p.Gln126Arg
XM_011533068.1:c.377A>G XP_011531370.1:p.Gln126Arg
XM_011533069.1:c.155A>G XP_011531371.1:p.Gln52Arg
XM_011533070.1:c.122A>G XP_011531372.1:p.Gln41Arg
XM_011533071.1:c.122A>G XP_011531373.1:p.Gln41Arg
XM_011533072.1:c.122A>G XP_011531374.1:p.Gln41Arg
XM_011533069.2:c.155A>G XP_011531371.1:p.Gln52Arg
XM_011533072.2:c.122A>G XP_011531374.1:p.Gln41Arg
NM_000348.4:c.377A>G VV MANE Preferred NP_000339.2:p.Gln126Arg
ENST00000622030.1:c.377A>G ENSP00000477587.1:p.Gln126Arg