Canonical Allele Identifier: CA346598092

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529431C>T , CM000664.2:g.31529431C>T	GRCh38
NC_000002.11:g.31754501C>T , CM000664.1:g.31754501C>T	GRCh37
NC_000002.10:g.31608005C>T	NCBI36
NG_008365.1:g.56541G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.574G>A MANE Select	NP_000339.2:p.Ala192Thr
ENST00000622030.2:c.574G>A MANE Select	ENSP00000477587.1:p.Ala192Thr
NM_000348.3:c.574G>A	NP_000339.2:p.Ala192Thr
ENST00000622030.1:c.574G>A	ENSP00000477587.1:p.Ala192Thr
XM_011533069.1:c.352G>A	XP_011531371.1:p.Ala118Thr
XM_011533069.2:c.352G>A	XP_011531371.1:p.Ala118Thr
XM_011533070.1:c.319G>A	XP_011531372.1:p.Ala107Thr
XM_011533071.1:c.319G>A	XP_011531373.1:p.Ala107Thr
XM_011533072.1:c.319G>A	XP_011531374.1:p.Ala107Thr
XM_011533072.2:c.319G>A	XP_011531374.1:p.Ala107Thr