Canonical Allele Identifier: CA346597875

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529322G>C , CM000664.2:g.31529322G>C	GRCh38
NC_000002.11:g.31754392G>C , CM000664.1:g.31754392G>C	GRCh37
NC_000002.10:g.31607896G>C	NCBI36
NG_008365.1:g.56650C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.683C>G MANE Select	NP_000339.2:p.Ala228Gly
ENST00000622030.2:c.683C>G MANE Select	ENSP00000477587.1:p.Ala228Gly
NM_000348.3:c.683C>G	NP_000339.2:p.Ala228Gly
ENST00000622030.1:c.683C>G	ENSP00000477587.1:p.Ala228Gly
XM_011533069.1:c.461C>G	XP_011531371.1:p.Ala154Gly
XM_011533069.2:c.461C>G	XP_011531371.1:p.Ala154Gly
XM_011533070.1:c.428C>G	XP_011531372.1:p.Ala143Gly
XM_011533071.1:c.428C>G	XP_011531373.1:p.Ala143Gly
XM_011533072.1:c.428C>G	XP_011531374.1:p.Ala143Gly
XM_011533072.2:c.428C>G	XP_011531374.1:p.Ala143Gly