Canonical Allele Identifier: CA1242199299

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1439284952
• gnomAD v4: 2-31533586-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533586T>G , CM000664.2:g.31533586T>G	GRCh38
NC_000002.11:g.31758656T>G , CM000664.1:g.31758656T>G	GRCh37
NC_000002.10:g.31612160T>G	NCBI36
NG_008365.1:g.52386A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.445+17A>C MANE Select	ENSP00000477587.1:n.445+17A>C
ENST00000622030.1:c.445+17A>C	ENSP00000477587.1:n.445+17A>C
NM_000348.3:c.445+17A>C	NP_000339.2:n.445+17A>C
XM_011533068.1:c.445+17A>C	XP_011531370.1:n.445+17A>C
XM_011533069.1:c.223+17A>C	XP_011531371.1:n.223+17A>C
XM_011533070.1:c.190+17A>C	XP_011531372.1:n.190+17A>C
XM_011533071.1:c.190+17A>C	XP_011531373.1:n.190+17A>C
XM_011533072.1:c.190+17A>C	XP_011531374.1:n.190+17A>C
XM_011533069.2:c.223+17A>C	XP_011531371.1:n.223+17A>C
XM_011533072.2:c.190+17A>C	XP_011531374.1:n.190+17A>C
NM_000348.4:c.445+17A>C MANE Select	NP_000339.2:n.445+17A>C