Canonical Allele Identifier: CA2499306156

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[31529314G>A;31580732C>A] , CM000664.2:g.[31529314G>A;31580732C>A]	GRCh38
NC_000002.11:g.[31754384G>A;31805802C>A] , CM000664.1:g.[31754384G>A;31805802C>A]	GRCh37
NC_000002.10:g.[31607888G>A;31659306C>A]	NCBI36
NG_008365.1:g.[5240G>T;56658C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.[169G>T;691C>T] MANE Select	ENSP00000477587.1:p.Glu57Ter
ENST00000622030.1:c.[169G>T;691C>T]	ENSP00000477587.1:p.Glu57Ter
NM_000348.3:c.[169G>T;691C>T]	NP_000339.2:p.Glu57Ter
XM_011533070.1:c.[27-46966G>T;436C>T]	XP_011531372.1:p.His146Tyr
XM_011533071.1:c.[27-46966G>T;436C>T]	XP_011531373.1:p.His146Tyr
XM_011533072.1:c.[27-46966G>T;436C>T]	XP_011531374.1:p.His146Tyr
XM_011533072.2:c.[27-46966G>T;436C>T]	XP_011531374.1:p.His146Tyr
NM_000348.4:c.[169G>T;691C>T] MANE Select	NP_000339.2:p.Glu57Ter