Canonical Allele Identifier: CA346598609
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31533699-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533699C>T , CM000664.2:g.31533699C>T GRCh38
NC_000002.11:g.31758769C>T , CM000664.1:g.31758769C>T GRCh37
NC_000002.10:g.31612273C>T NCBI36
NG_008365.1:g.52273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.349G>A MANE Select ENSP00000477587.1:p.Ala117Thr
ENST00000622030.1:c.349G>A ENSP00000477587.1:p.Ala117Thr
NM_000348.3:c.349G>A NP_000339.2:p.Ala117Thr
XM_011533068.1:c.349G>A XP_011531370.1:p.Ala117Thr
XM_011533069.1:c.127G>A XP_011531371.1:p.Ala43Thr
XM_011533070.1:c.94G>A XP_011531372.1:p.Ala32Thr
XM_011533071.1:c.94G>A XP_011531373.1:p.Ala32Thr
XM_011533072.1:c.94G>A XP_011531374.1:p.Ala32Thr
XM_011533069.2:c.127G>A XP_011531371.1:p.Ala43Thr
XM_011533072.2:c.94G>A XP_011531374.1:p.Ala32Thr
NM_000348.4:c.349G>A MANE Select NP_000339.2:p.Ala117Thr