Canonical Allele Identifier: CA1346961481
Community Standard Title: NM_004628.5(XPC):c.1496C= (p.Ala499=)
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158387G= , CM000665.2:g.14158387G= GRCh38
NC_000003.11:g.14199887G= , CM000665.1:g.14199887G= GRCh37
NC_000003.10:g.14174889G= NCBI36
NG_011763.1:g.25286C= , LRG_472:g.25286C=

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.1496C= MANE Select NP_004619.3:p.Ala499=
ENST00000285021.12:c.1496C= MANE Select ENSP00000285021.8:p.Ala499=
NM_001354726.1:c.917C= NP_001341655.1:p.Ala306=
NM_001354726.2:c.917C= NP_001341655.1:p.Ala306=
NM_001354727.1:c.1496C= NP_001341656.1:p.Ala499=
NM_001354727.2:c.1496C= NP_001341656.1:p.Ala499=
NM_001354729.1:c.1478C= NP_001341658.1:p.Ala493=
NM_001354729.2:c.1478C= NP_001341658.1:p.Ala493=
NM_001354730.1:c.1496C= NP_001341659.1:p.Ala499=
NM_001354730.2:c.1496C= NP_001341659.1:p.Ala499=
NM_004628.4:c.1496C= , LRG_472t1:c.1496C= NP_004619.3:p.Ala499=
NR_027299.1:n.1476C=
NR_148950.1:n.1600C=
NR_148950.2:n.1529C=
NR_148951.1:n.1476C=
NR_148951.2:n.1405C=
ENST00000285021.11:c.1496C= ENSP00000285021.7:p.Ala499=
ENST00000476581.6:c.*949C= ENSP00000424548.1:n.*949C=
XM_011534092.1:c.1496C= XP_011532394.1:p.Ala499=
XM_011534093.1:c.1496C= XP_011532395.1:p.Ala499=
XR_001740256.2:n.1529C=
XR_002959580.1:n.1529C=
XR_002959581.1:n.1529C=