Canonical Allele Identifier: CA97480735
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs1011899754
gnomAD v2: 4-56225454-G-A
gnomAD v3: 4-55359287-G-A
gnomAD v4: 4-55359287-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359287G>A , CM000666.2:g.55359287G>A GRCh38
NC_000004.11:g.56225454G>A , CM000666.1:g.56225454G>A GRCh37
NC_000004.10:g.55920211G>A NCBI36
NG_028230.1:g.18067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.222-59G>A MANE Select ENSP00000264228.4:n.222-59G>A
ENST00000678717.1:n.119-59G>A
ENST00000679351.1:c.222-59G>A ENSP00000505676.1:n.222-59G>A
ENST00000679707.1:c.222-59G>A ENSP00000505713.1:n.222-59G>A
ENST00000679836.1:c.222-59G>A ENSP00000506601.1:n.222-59G>A
ENST00000680700.1:c.222-59G>A ENSP00000504926.1:n.222-59G>A
ENST00000264228.8:c.222-59G>A ENSP00000264228.4:n.222-59G>A
ENST00000505210.1:c.147-59G>A ENSP00000424714.1:n.147-59G>A
ENST00000514398.1:n.231-59G>A
NM_024592.4:c.222-59G>A NP_078868.1:n.222-59G>A
XM_005265766.2:c.222-59G>A XP_005265823.1:n.222-59G>A
XM_005265767.2:c.222-59G>A XP_005265824.1:n.222-59G>A
XM_005265766.4:c.222-59G>A XP_005265823.1:n.222-59G>A
XM_005265767.3:c.222-59G>A XP_005265824.1:n.222-59G>A
XM_017008601.1:c.87-59G>A XP_016864090.1:n.87-59G>A
NM_024592.5:c.222-59G>A MANE Select NP_078868.1:n.222-59G>A