Canonical Allele Identifier: CA346598338
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531452-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531452C>A , CM000664.2:g.31531452C>A GRCh38
NC_000002.11:g.31756522C>A , CM000664.1:g.31756522C>A GRCh37
NC_000002.10:g.31610026C>A NCBI36
NG_008365.1:g.54520G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.466G>T MANE Select ENSP00000477587.1:p.Gly156Ter
ENST00000622030.1:c.466G>T ENSP00000477587.1:p.Gly156Ter
NM_000348.3:c.466G>T NP_000339.2:p.Gly156Ter
XM_011533069.1:c.244G>T XP_011531371.1:p.Gly82Ter
XM_011533070.1:c.211G>T XP_011531372.1:p.Gly71Ter
XM_011533071.1:c.211G>T XP_011531373.1:p.Gly71Ter
XM_011533072.1:c.211G>T XP_011531374.1:p.Gly71Ter
XM_011533069.2:c.244G>T XP_011531371.1:p.Gly82Ter
XM_011533072.2:c.211G>T XP_011531374.1:p.Gly71Ter
NM_000348.4:c.466G>T MANE Select NP_000339.2:p.Gly156Ter