Canonical Allele Identifier: CA2658498435

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531262-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531262T>A , CM000664.2:g.31531262T>A	GRCh38
NC_000002.11:g.31756332T>A , CM000664.1:g.31756332T>A	GRCh37
NC_000002.10:g.31609836T>A	NCBI36
NG_008365.1:g.54710A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+109A>T MANE Select	ENSP00000477587.1:n.547+109A>T
ENST00000622030.1:c.547+109A>T	ENSP00000477587.1:n.547+109A>T
NM_000348.3:c.547+109A>T	NP_000339.2:n.547+109A>T
XM_011533069.1:c.325+109A>T	XP_011531371.1:n.325+109A>T
XM_011533070.1:c.292+109A>T	XP_011531372.1:n.292+109A>T
XM_011533071.1:c.292+109A>T	XP_011531373.1:n.292+109A>T
XM_011533072.1:c.292+109A>T	XP_011531374.1:n.292+109A>T
XM_011533069.2:c.325+109A>T	XP_011531371.1:n.325+109A>T
XM_011533072.2:c.292+109A>T	XP_011531374.1:n.292+109A>T
NM_000348.4:c.547+109A>T MANE Select	NP_000339.2:n.547+109A>T