Canonical Allele Identifier: CA2658498074

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529196-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529196C>T , CM000664.2:g.31529196C>T	GRCh38
NC_000002.11:g.31754266C>T , CM000664.1:g.31754266C>T	GRCh37
NC_000002.10:g.31607770C>T	NCBI36
NG_008365.1:g.56776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.698+111G>A MANE Select	ENSP00000477587.1:n.698+111G>A
ENST00000622030.1:c.698+111G>A	ENSP00000477587.1:n.698+111G>A
NM_000348.3:c.698+111G>A	NP_000339.2:n.698+111G>A
XM_011533069.1:c.476+111G>A	XP_011531371.1:n.476+111G>A
XM_011533070.1:c.443+111G>A	XP_011531372.1:n.443+111G>A
XM_011533071.1:c.443+111G>A	XP_011531373.1:n.443+111G>A
XM_011533072.1:c.443+111G>A	XP_011531374.1:n.443+111G>A
XM_011533069.2:c.476+111G>A	XP_011531371.1:n.476+111G>A
XM_011533072.2:c.443+111G>A	XP_011531374.1:n.443+111G>A
NM_000348.4:c.698+111G>A MANE Select	NP_000339.2:n.698+111G>A