Canonical Allele Identifier: CA346598671
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31533732-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533732G>T , CM000664.2:g.31533732G>T GRCh38
NC_000002.11:g.31758802G>T , CM000664.1:g.31758802G>T GRCh37
NC_000002.10:g.31612306G>T NCBI36
NG_008365.1:g.52240C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.316C>A MANE Select ENSP00000477587.1:p.Pro106Thr
ENST00000622030.1:c.316C>A ENSP00000477587.1:p.Pro106Thr
NM_000348.3:c.316C>A NP_000339.2:p.Pro106Thr
XM_011533068.1:c.316C>A XP_011531370.1:p.Pro106Thr
XM_011533069.1:c.94C>A XP_011531371.1:p.Pro32Thr
XM_011533070.1:c.61C>A XP_011531372.1:p.Pro21Thr
XM_011533071.1:c.61C>A XP_011531373.1:p.Pro21Thr
XM_011533072.1:c.61C>A XP_011531374.1:p.Pro21Thr
XM_011533069.2:c.94C>A XP_011531371.1:p.Pro32Thr
XM_011533072.2:c.61C>A XP_011531374.1:p.Pro21Thr
NM_000348.4:c.316C>A MANE Select NP_000339.2:p.Pro106Thr