Canonical Allele Identifier: CA1028963344

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1665897846
• gnomAD v3: 2-31531141-G-A
• gnomAD v4: 2-31531141-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531141G>A , CM000664.2:g.31531141G>A	GRCh38
NC_000002.11:g.31756211G>A , CM000664.1:g.31756211G>A	GRCh37
NC_000002.10:g.31609715G>A	NCBI36
NG_008365.1:g.54831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+230C>T MANE Select	ENSP00000477587.1:n.547+230C>T
ENST00000622030.1:c.547+230C>T	ENSP00000477587.1:n.547+230C>T
NM_000348.3:c.547+230C>T	NP_000339.2:n.547+230C>T
XM_011533069.1:c.325+230C>T	XP_011531371.1:n.325+230C>T
XM_011533070.1:c.292+230C>T	XP_011531372.1:n.292+230C>T
XM_011533071.1:c.292+230C>T	XP_011531373.1:n.292+230C>T
XM_011533072.1:c.292+230C>T	XP_011531374.1:n.292+230C>T
XM_011533069.2:c.325+230C>T	XP_011531371.1:n.325+230C>T
XM_011533072.2:c.292+230C>T	XP_011531374.1:n.292+230C>T
NM_000348.4:c.547+230C>T MANE Select	NP_000339.2:n.547+230C>T