Canonical Allele Identifier: CA346598647
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.328A>T MANE Select ENSP00000477587.1:p.Ile110Leu
ENST00000622030.1:c.328A>T ENSP00000477587.1:p.Ile110Leu
NM_000348.3:c.328A>T NP_000339.2:p.Ile110Leu
XM_011533068.1:c.328A>T XP_011531370.1:p.Ile110Leu
XM_011533069.1:c.106A>T XP_011531371.1:p.Ile36Leu
XM_011533070.1:c.73A>T XP_011531372.1:p.Ile25Leu
XM_011533071.1:c.73A>T XP_011531373.1:p.Ile25Leu
XM_011533072.1:c.73A>T XP_011531374.1:p.Ile25Leu
XM_011533069.2:c.106A>T XP_011531371.1:p.Ile36Leu
XM_011533072.2:c.73A>T XP_011531374.1:p.Ile25Leu
NM_000348.4:c.328A>T MANE Select NP_000339.2:p.Ile110Leu