Canonical Allele Identifier: CA346598903
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492897
ClinVar RCV Id: RCV000583779
dbSNP Id: rs1553329443
gnomAD v4: 2-31580696-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580696C>A , CM000664.2:g.31580696C>A GRCh38
NC_000002.11:g.31805766C>A , CM000664.1:g.31805766C>A GRCh37
NC_000002.10:g.31659270C>A NCBI36
NG_008365.1:g.5276G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.205G>T MANE Select ENSP00000477587.1:p.Ala69Ser
ENST00000622030.1:c.205G>T ENSP00000477587.1:p.Ala69Ser
NM_000348.3:c.205G>T NP_000339.2:p.Ala69Ser
XM_011533068.1:c.205G>T XP_011531370.1:p.Ala69Ser
XM_011533070.1:c.27-46930G>T XP_011531372.1:n.27-46930G>T
XM_011533071.1:c.27-46930G>T XP_011531373.1:n.27-46930G>T
XM_011533072.1:c.27-46930G>T XP_011531374.1:n.27-46930G>T
XM_011533072.2:c.27-46930G>T XP_011531374.1:n.27-46930G>T
NM_000348.4:c.205G>T MANE Select NP_000339.2:p.Ala69Ser