Canonical Allele Identifier: CA356956714
Gene: SRD5A3 HGNC NCBI

Linked Data

gnomAD v4: 4-55346455-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346455T>C , CM000666.2:g.55346455T>C GRCh38
NC_000004.11:g.56212622T>C , CM000666.1:g.56212622T>C GRCh37
NC_000004.10:g.55907379T>C NCBI36
NG_028230.1:g.5235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.119T>C MANE Select ENSP00000264228.4:p.Leu40Pro
ENST00000679351.1:c.119T>C ENSP00000505676.1:p.Leu40Pro
ENST00000679707.1:c.119T>C ENSP00000505713.1:p.Leu40Pro
ENST00000679836.1:c.119T>C ENSP00000506601.1:p.Leu40Pro
ENST00000680700.1:c.119T>C ENSP00000504926.1:p.Leu40Pro
ENST00000264228.8:c.119T>C ENSP00000264228.4:p.Leu40Pro
ENST00000505210.1:c.44T>C ENSP00000424714.1:p.Leu15Pro
NM_024592.4:c.119T>C NP_078868.1:p.Leu40Pro
XM_005265766.2:c.119T>C XP_005265823.1:p.Leu40Pro
XM_005265767.2:c.119T>C XP_005265824.1:p.Leu40Pro
XM_005265766.4:c.119T>C XP_005265823.1:p.Leu40Pro
XM_005265767.3:c.119T>C XP_005265824.1:p.Leu40Pro
NM_024592.5:c.119T>C MANE Select NP_078868.1:p.Leu40Pro