Canonical Allele Identifier: CA425567406

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529327C>A , CM000664.2:g.31529327C>A	GRCh38
NC_000002.11:g.31754397C>A , CM000664.1:g.31754397C>A	GRCh37
NC_000002.10:g.31607901C>A	NCBI36
NG_008365.1:g.56645G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.678G>T MANE Select	NP_000339.2:p.Leu226=
ENST00000622030.2:c.678G>T MANE Select	ENSP00000477587.1:p.Leu226=
NM_000348.3:c.678G>T	NP_000339.2:p.Leu226=
ENST00000622030.1:c.678G>T	ENSP00000477587.1:p.Leu226=
XM_011533069.1:c.456G>T	XP_011531371.1:p.Leu152=
XM_011533069.2:c.456G>T	XP_011531371.1:p.Leu152=
XM_011533070.1:c.423G>T	XP_011531372.1:p.Leu141=
XM_011533071.1:c.423G>T	XP_011531373.1:p.Leu141=
XM_011533072.1:c.423G>T	XP_011531374.1:p.Leu141=
XM_011533072.2:c.423G>T	XP_011531374.1:p.Leu141=