Canonical Allele Identifier: CA356958391
Community Standard Title: NM_024592.5(SRD5A3):c.869T>C (p.Leu290Pro)
Gene: SRD5A3 HGNC NCBI
SRD5A3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55370003T>C , CM000666.2:g.55370003T>C GRCh38
NC_000004.11:g.56236170T>C , CM000666.1:g.56236170T>C GRCh37
NC_000004.10:g.55930927T>C NCBI36
NG_028230.1:g.28783T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024592.5:c.869T>C (SRD5A3) MANE Select NP_078868.1:p.Leu290Pro
ENST00000264228.9:c.869T>C (SRD5A3) MANE Select ENSP00000264228.4:p.Leu290Pro
NM_024592.4:c.869T>C (SRD5A3) NP_078868.1:p.Leu290Pro
NR_037969.1:n.364-2840A>G (SRD5A3-AS1)
ENST00000264228.8:c.869T>C (SRD5A3) ENSP00000264228.4:p.Leu290Pro
ENST00000505210.1:c.461T>C (SRD5A3) ENSP00000424714.1:p.Leu154Pro
ENST00000677177.2:c.716T>C (SRD5A3)
ENST00000677217.1:n.606T>C (SRD5A3)
ENST00000677930.1:n.3201T>C (SRD5A3)
ENST00000678717.1:n.766T>C (SRD5A3)
ENST00000679351.1:c.*475T>C ENSP00000505676.1:n.*475T>C
ENST00000679707.1:c.563-1671T>C ENSP00000505713.1:n.563-1671T>C
ENST00000679836.1:c.734T>C (SRD5A3) ENSP00000506601.1:p.Leu245Pro
ENST00000680700.1:c.562+5732T>C ENSP00000504926.1:n.562+5732T>C
XM_005265766.2:c.734T>C (SRD5A3) XP_005265823.1:p.Leu245Pro
XM_005265766.4:c.734T>C (SRD5A3) XP_005265823.1:p.Leu245Pro
XM_005265767.2:c.536T>C (SRD5A3) XP_005265824.1:p.Leu179Pro
XM_005265767.3:c.536T>C (SRD5A3) XP_005265824.1:p.Leu179Pro
XM_017008601.1:c.734T>C (SRD5A3) XP_016864090.1:p.Leu245Pro