Canonical Allele Identifier: CA1242199426
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1665970097
gnomAD v4: 2-31533875-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533875C>T , CM000664.2:g.31533875C>T GRCh38
NC_000002.11:g.31758945C>T , CM000664.1:g.31758945C>T GRCh37
NC_000002.10:g.31612449C>T NCBI36
NG_008365.1:g.52097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.282-109G>A MANE Select ENSP00000477587.1:n.282-109G>A
ENST00000622030.1:c.282-109G>A ENSP00000477587.1:n.282-109G>A
NM_000348.3:c.282-109G>A NP_000339.2:n.282-109G>A
XM_011533068.1:c.282-109G>A XP_011531370.1:n.282-109G>A
XM_011533069.1:c.60-109G>A XP_011531371.1:n.60-109G>A
XM_011533070.1:c.27-109G>A XP_011531372.1:n.27-109G>A
XM_011533071.1:c.27-109G>A XP_011531373.1:n.27-109G>A
XM_011533072.1:c.27-109G>A XP_011531374.1:n.27-109G>A
XM_011533069.2:c.60-109G>A XP_011531371.1:n.60-109G>A
XM_011533072.2:c.27-109G>A XP_011531374.1:n.27-109G>A
NM_000348.4:c.282-109G>A MANE Select NP_000339.2:n.282-109G>A