Canonical Allele Identifier: CA1242198270

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1665900672
• gnomAD v4: 2-31531317-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531317C>A , CM000664.2:g.31531317C>A	GRCh38
NC_000002.11:g.31756387C>A , CM000664.1:g.31756387C>A	GRCh37
NC_000002.10:g.31609891C>A	NCBI36
NG_008365.1:g.54655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+54G>T MANE Select	ENSP00000477587.1:n.547+54G>T
ENST00000622030.1:c.547+54G>T	ENSP00000477587.1:n.547+54G>T
NM_000348.3:c.547+54G>T	NP_000339.2:n.547+54G>T
XM_011533069.1:c.325+54G>T	XP_011531371.1:n.325+54G>T
XM_011533070.1:c.292+54G>T	XP_011531372.1:n.292+54G>T
XM_011533071.1:c.292+54G>T	XP_011531373.1:n.292+54G>T
XM_011533072.1:c.292+54G>T	XP_011531374.1:n.292+54G>T
XM_011533069.2:c.325+54G>T	XP_011531371.1:n.325+54G>T
XM_011533072.2:c.292+54G>T	XP_011531374.1:n.292+54G>T
NM_000348.4:c.547+54G>T MANE Select	NP_000339.2:n.547+54G>T