Canonical Allele Identifier: CA1242215041

Gene: SRD5A2

Linked Data

• dbSNP Id: rs531311338

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31568272G>A , CM000664.2:g.31568272G>A	GRCh38
NC_000002.11:g.31793342G>A , CM000664.1:g.31793342G>A	GRCh37
NC_000002.10:g.31646846G>A	NCBI36
NG_008365.1:g.17700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12348C>T MANE Select	ENSP00000477587.1:n.281+12348C>T
ENST00000622030.1:c.281+12348C>T	ENSP00000477587.1:n.281+12348C>T
NM_000348.3:c.281+12348C>T	NP_000339.2:n.281+12348C>T
XM_011533068.1:c.281+12348C>T	XP_011531370.1:n.281+12348C>T
XM_011533070.1:c.27-34506C>T	XP_011531372.1:n.27-34506C>T
XM_011533071.1:c.27-34506C>T	XP_011531373.1:n.27-34506C>T
XM_011533072.1:c.27-34506C>T	XP_011531374.1:n.27-34506C>T
XM_011533072.2:c.27-34506C>T	XP_011531374.1:n.27-34506C>T
NM_000348.4:c.281+12348C>T MANE Select	NP_000339.2:n.281+12348C>T