Canonical Allele Identifier: CA2796598
Community Standard Title: NM_006315.7(PCGF3):c.322A>C (p.Ile108Leu)
Gene: PCGF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.743533A>C , CM000666.2:g.743533A>C GRCh38
NC_000004.11:g.737321A>C , CM000666.1:g.737321A>C GRCh37
NC_000004.10:g.727321A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006315.7:c.322A>C MANE Select NP_006306.2:p.Ile108Leu
ENST00000362003.10:c.322A>C MANE Select ENSP00000354724.5:p.Ile108Leu
NM_001317836.1:c.322A>C NP_001304765.1:p.Ile108Leu
NM_001317836.2:c.322A>C NP_001304765.1:p.Ile108Leu
NM_001317836.3:c.322A>C NP_001304765.1:p.Ile108Leu
NM_001395245.1:c.322A>C NP_001382174.1:p.Ile108Leu
NM_001395246.1:c.322A>C NP_001382175.1:p.Ile108Leu
NM_001395247.1:c.322A>C NP_001382176.1:p.Ile108Leu
NM_001395248.1:c.322A>C NP_001382177.1:p.Ile108Leu
NM_001395249.1:c.322A>C NP_001382178.1:p.Ile108Leu
NM_001395250.1:c.220A>C NP_001382179.1:p.Ile74Leu
NM_001395251.1:c.220A>C NP_001382180.1:p.Ile74Leu
NM_006315.4:c.322A>C NP_006306.2:p.Ile108Leu
NM_006315.5:c.322A>C NP_006306.2:p.Ile108Leu
NM_006315.6:c.322A>C NP_006306.2:p.Ile108Leu
ENST00000362003.9:c.322A>C ENSP00000354724.5:p.Ile108Leu
ENST00000430644.5:c.*1024A>C ENSP00000402946.1:n.*1024A>C
ENST00000433814.5:c.322A>C ENSP00000398493.1:p.Ile108Leu
ENST00000440452.5:c.*1024A>C ENSP00000405840.1:n.*1024A>C
ENST00000470161.6:c.322A>C ENSP00000420489.2:p.Ile108Leu
ENST00000505655.2:c.322A>C ENSP00000423393.2:p.Ile108Leu
XM_005272250.1:c.322A>C XP_005272307.1:p.Ile108Leu
XM_005272253.1:c.220A>C XP_005272310.1:p.Ile74Leu
XM_005272254.1:c.220A>C XP_005272311.1:p.Ile74Leu
XM_006713852.1:c.220A>C XP_006713915.1:p.Ile74Leu
XM_011513381.1:c.322A>C XP_011511683.1:p.Ile108Leu
XM_011513382.1:c.322A>C XP_011511684.1:p.Ile108Leu
XM_011513383.1:c.322A>C XP_011511685.1:p.Ile108Leu
XM_011513384.1:c.322A>C XP_011511686.1:p.Ile108Leu
XM_011513385.1:c.322A>C XP_011511687.1:p.Ile108Leu