Canonical Allele Identifier: CA356957022
Gene: SRD5A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2429406
ClinVar RCV Id: RCV003126343
dbSNP Id: rs1242426163
gnomAD v3: 4-55359380-T-C
gnomAD v4: 4-55359380-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359380T>C , CM000666.2:g.55359380T>C GRCh38
NC_000004.11:g.56225547T>C , CM000666.1:g.56225547T>C GRCh37
NC_000004.10:g.55920304T>C NCBI36
NG_028230.1:g.18160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.256T>C MANE Select ENSP00000264228.4:p.Trp86Arg
ENST00000678717.1:n.153T>C
ENST00000679351.1:c.256T>C ENSP00000505676.1:p.Trp86Arg
ENST00000679707.1:c.256T>C ENSP00000505713.1:p.Trp86Arg
ENST00000679836.1:c.256T>C ENSP00000506601.1:p.Trp86Arg
ENST00000680700.1:c.256T>C ENSP00000504926.1:p.Trp86Arg
ENST00000264228.8:c.256T>C ENSP00000264228.4:p.Trp86Arg
ENST00000505210.1:c.181T>C ENSP00000424714.1:p.Trp61Arg
ENST00000514398.1:n.265T>C
NM_024592.4:c.256T>C NP_078868.1:p.Trp86Arg
XM_005265766.2:c.256T>C XP_005265823.1:p.Trp86Arg
XM_005265767.2:c.256T>C XP_005265824.1:p.Trp86Arg
XM_005265766.4:c.256T>C XP_005265823.1:p.Trp86Arg
XM_005265767.3:c.256T>C XP_005265824.1:p.Trp86Arg
XM_017008601.1:c.121T>C XP_016864090.1:p.Trp41Arg
NM_024592.5:c.256T>C MANE Select NP_078868.1:p.Trp86Arg