Canonical Allele Identifier: CA45142480
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs988137457
gnomAD v3: 2-31583863-C-T
gnomAD v4: 2-31583863-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31583863C>T , CM000664.2:g.31583863C>T GRCh38
NC_000002.11:g.31808932C>T , CM000664.1:g.31808932C>T GRCh37
NC_000002.10:g.31662436C>T NCBI36
NG_008365.1:g.2109G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011533070.1:c.27-50097G>A XP_011531372.1:n.27-50097G>A
XM_011533071.1:c.27-50097G>A XP_011531373.1:n.27-50097G>A
XM_011533072.1:c.27-50097G>A XP_011531374.1:n.27-50097G>A
XM_011533072.2:c.27-50097G>A XP_011531374.1:n.27-50097G>A