Canonical Allele Identifier: CA346597776
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31526241-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526241C>A , CM000664.2:g.31526241C>A GRCh38
NC_000002.11:g.31751311C>A , CM000664.1:g.31751311C>A GRCh37
NC_000002.10:g.31604815C>A NCBI36
NG_008365.1:g.59731G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.720G>T MANE Select ENSP00000477587.1:p.Glu240Asp
ENST00000622030.1:c.720G>T ENSP00000477587.1:p.Glu240Asp
NM_000348.3:c.720G>T NP_000339.2:p.Glu240Asp
XM_011533069.1:c.498G>T XP_011531371.1:p.Glu166Asp
XM_011533070.1:c.465G>T XP_011531372.1:p.Glu155Asp
XM_011533071.1:c.465G>T XP_011531373.1:p.Glu155Asp
XM_011533072.1:c.465G>T XP_011531374.1:p.Glu155Asp
XM_011533069.2:c.498G>T XP_011531371.1:p.Glu166Asp
XM_011533072.2:c.465G>T XP_011531374.1:p.Glu155Asp
NM_000348.4:c.720G>T MANE Select NP_000339.2:p.Glu240Asp