Canonical Allele Identifier: CA340070
Gene: SRD5A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3340
ClinVar RCV Id: RCV000003504
dbSNP Id: rs121434246

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533704C>T , CM000664.2:g.31533704C>T GRCh38
NC_000002.11:g.31758774C>T , CM000664.1:g.31758774C>T GRCh37
NC_000002.10:g.31612278C>T NCBI36
NG_008365.1:g.52268G>A

Transcript Alleles

HGVS Amino-acid change
NM_000348.3:c.344G>A VV NP_000339.2:p.Gly115Asp
XM_011533068.1:c.344G>A XP_011531370.1:p.Gly115Asp
XM_011533069.1:c.122G>A XP_011531371.1:p.Gly41Asp
XM_011533070.1:c.89G>A XP_011531372.1:p.Gly30Asp
XM_011533071.1:c.89G>A XP_011531373.1:p.Gly30Asp
XM_011533072.1:c.89G>A XP_011531374.1:p.Gly30Asp
XM_011533069.2:c.122G>A XP_011531371.1:p.Gly41Asp
XM_011533072.2:c.89G>A XP_011531374.1:p.Gly30Asp
NM_000348.4:c.344G>A VV MANE Preferred NP_000339.2:p.Gly115Asp
ENST00000622030.1:c.344G>A ENSP00000477587.1:p.Gly115Asp