Canonical Allele Identifier: CA45136784
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs769436494
gnomAD v2: 2-31758802-G-A
gnomAD v4: 2-31533732-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.316C>T MANE Select ENSP00000477587.1:p.Pro106Ser
ENST00000622030.1:c.316C>T ENSP00000477587.1:p.Pro106Ser
NM_000348.3:c.316C>T NP_000339.2:p.Pro106Ser
XM_011533068.1:c.316C>T XP_011531370.1:p.Pro106Ser
XM_011533069.1:c.94C>T XP_011531371.1:p.Pro32Ser
XM_011533070.1:c.61C>T XP_011531372.1:p.Pro21Ser
XM_011533071.1:c.61C>T XP_011531373.1:p.Pro21Ser
XM_011533072.1:c.61C>T XP_011531374.1:p.Pro21Ser
XM_011533069.2:c.94C>T XP_011531371.1:p.Pro32Ser
XM_011533072.2:c.61C>T XP_011531374.1:p.Pro21Ser
NM_000348.4:c.316C>T MANE Select NP_000339.2:p.Pro106Ser