Canonical Allele Identifier: CA346598144
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529457C>T , CM000664.2:g.31529457C>T GRCh38
NC_000002.11:g.31754527C>T , CM000664.1:g.31754527C>T GRCh37
NC_000002.10:g.31608031C>T NCBI36
NG_008365.1:g.56515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.548G>A MANE Select ENSP00000477587.1:p.Gly183Asp
ENST00000622030.1:c.548G>A ENSP00000477587.1:p.Gly183Asp
NM_000348.3:c.548G>A NP_000339.2:p.Gly183Asp
XM_011533069.1:c.326G>A XP_011531371.1:p.Gly109Asp
XM_011533070.1:c.293G>A XP_011531372.1:p.Gly98Asp
XM_011533071.1:c.293G>A XP_011531373.1:p.Gly98Asp
XM_011533072.1:c.293G>A XP_011531374.1:p.Gly98Asp
XM_011533069.2:c.326G>A XP_011531371.1:p.Gly109Asp
XM_011533072.2:c.293G>A XP_011531374.1:p.Gly98Asp
NM_000348.4:c.548G>A MANE Select NP_000339.2:p.Gly183Asp