Canonical Allele Identifier: CA97480724
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs966475207
gnomAD v3: 4-55359217-T-C
gnomAD v4: 4-55359217-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359217T>C , CM000666.2:g.55359217T>C GRCh38
NC_000004.11:g.56225384T>C , CM000666.1:g.56225384T>C GRCh37
NC_000004.10:g.55920141T>C NCBI36
NG_028230.1:g.17997T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.222-129T>C MANE Select ENSP00000264228.4:n.222-129T>C
ENST00000678717.1:n.119-129T>C
ENST00000679351.1:c.222-129T>C ENSP00000505676.1:n.222-129T>C
ENST00000679707.1:c.222-129T>C ENSP00000505713.1:n.222-129T>C
ENST00000679836.1:c.222-129T>C ENSP00000506601.1:n.222-129T>C
ENST00000680700.1:c.222-129T>C ENSP00000504926.1:n.222-129T>C
ENST00000264228.8:c.222-129T>C ENSP00000264228.4:n.222-129T>C
ENST00000505210.1:c.147-129T>C ENSP00000424714.1:n.147-129T>C
ENST00000514398.1:n.218T>C
NM_024592.4:c.222-129T>C NP_078868.1:n.222-129T>C
XM_005265766.2:c.222-129T>C XP_005265823.1:n.222-129T>C
XM_005265767.2:c.222-129T>C XP_005265824.1:n.222-129T>C
XM_005265766.4:c.222-129T>C XP_005265823.1:n.222-129T>C
XM_005265767.3:c.222-129T>C XP_005265824.1:n.222-129T>C
XM_017008601.1:c.87-129T>C XP_016864090.1:n.87-129T>C
NM_024592.5:c.222-129T>C MANE Select NP_078868.1:n.222-129T>C