Canonical Allele Identifier: CA45142076
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs997186359
gnomAD v3: 2-31580980-C-T
gnomAD v4: 2-31580980-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580980C>T , CM000664.2:g.31580980C>T GRCh38
NC_000002.11:g.31806049C>T , CM000664.1:g.31806049C>T GRCh37
NC_000002.10:g.31659553C>T NCBI36
NG_008365.1:g.4992G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.1:c.-80G>A ENSP00000477587.1:n.-80G>A
XM_011533068.1:c.-80G>A XP_011531370.1:n.-80G>A
XM_011533070.1:c.27-47214G>A XP_011531372.1:n.27-47214G>A
XM_011533071.1:c.27-47214G>A XP_011531373.1:n.27-47214G>A
XM_011533072.1:c.27-47214G>A XP_011531374.1:n.27-47214G>A
XM_011533072.2:c.27-47214G>A XP_011531374.1:n.27-47214G>A