Canonical Allele Identifier: CA346598681
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533738C>T , CM000664.2:g.31533738C>T GRCh38
NC_000002.11:g.31758808C>T , CM000664.1:g.31758808C>T GRCh37
NC_000002.10:g.31612312C>T NCBI36
NG_008365.1:g.52234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.310G>A MANE Select ENSP00000477587.1:p.Gly104Arg
ENST00000622030.1:c.310G>A ENSP00000477587.1:p.Gly104Arg
NM_000348.3:c.310G>A NP_000339.2:p.Gly104Arg
XM_011533068.1:c.310G>A XP_011531370.1:p.Gly104Arg
XM_011533069.1:c.88G>A XP_011531371.1:p.Gly30Arg
XM_011533070.1:c.55G>A XP_011531372.1:p.Gly19Arg
XM_011533071.1:c.55G>A XP_011531373.1:p.Gly19Arg
XM_011533072.1:c.55G>A XP_011531374.1:p.Gly19Arg
XM_011533069.2:c.88G>A XP_011531371.1:p.Gly30Arg
XM_011533072.2:c.55G>A XP_011531374.1:p.Gly19Arg
NM_000348.4:c.310G>A MANE Select NP_000339.2:p.Gly104Arg