Canonical Allele Identifier: CA356956658
Gene: SRD5A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346424C>G , CM000666.2:g.55346424C>G GRCh38
NC_000004.11:g.56212591C>G , CM000666.1:g.56212591C>G GRCh37
NC_000004.10:g.55907348C>G NCBI36
NG_028230.1:g.5204C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.88C>G MANE Select ENSP00000264228.4:p.Leu30Val
ENST00000679351.1:c.88C>G ENSP00000505676.1:p.Leu30Val
ENST00000679707.1:c.88C>G ENSP00000505713.1:p.Leu30Val
ENST00000679836.1:c.88C>G ENSP00000506601.1:p.Leu30Val
ENST00000680700.1:c.88C>G ENSP00000504926.1:p.Leu30Val
ENST00000264228.8:c.88C>G ENSP00000264228.4:p.Leu30Val
ENST00000505210.1:c.13C>G ENSP00000424714.1:p.Leu5Val
NM_024592.4:c.88C>G NP_078868.1:p.Leu30Val
XM_005265766.2:c.88C>G XP_005265823.1:p.Leu30Val
XM_005265767.2:c.88C>G XP_005265824.1:p.Leu30Val
XM_005265766.4:c.88C>G XP_005265823.1:p.Leu30Val
XM_005265767.3:c.88C>G XP_005265824.1:p.Leu30Val
NM_024592.5:c.88C>G MANE Select NP_078868.1:p.Leu30Val