Canonical Allele Identifier: CA346598652
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1336325184
gnomAD v3: 2-31533723-C-A
gnomAD v4: 2-31533723-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533723C>A , CM000664.2:g.31533723C>A GRCh38
NC_000002.11:g.31758793C>A , CM000664.1:g.31758793C>A GRCh37
NC_000002.10:g.31612297C>A NCBI36
NG_008365.1:g.52249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.325G>T MANE Select ENSP00000477587.1:p.Ala109Ser
ENST00000622030.1:c.325G>T ENSP00000477587.1:p.Ala109Ser
NM_000348.3:c.325G>T NP_000339.2:p.Ala109Ser
XM_011533068.1:c.325G>T XP_011531370.1:p.Ala109Ser
XM_011533069.1:c.103G>T XP_011531371.1:p.Ala35Ser
XM_011533070.1:c.70G>T XP_011531372.1:p.Ala24Ser
XM_011533071.1:c.70G>T XP_011531373.1:p.Ala24Ser
XM_011533072.1:c.70G>T XP_011531374.1:p.Ala24Ser
XM_011533069.2:c.103G>T XP_011531371.1:p.Ala35Ser
XM_011533072.2:c.70G>T XP_011531374.1:p.Ala24Ser
NM_000348.4:c.325G>T MANE Select NP_000339.2:p.Ala109Ser