Canonical Allele Identifier: CA1346950834
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148816T= , CM000665.2:g.14148816T= GRCh38
NC_000003.11:g.14190316T= , CM000665.1:g.14190316T= GRCh37
NC_000003.10:g.14165317T= NCBI36
NG_011763.1:g.34857A= , LRG_472:g.34857A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2248A= MANE Select ENSP00000285021.8:p.Lys750=
ENST00000285021.11:c.2248A= ENSP00000285021.7:p.Lys750=
ENST00000427795.2:n.113A=
ENST00000476581.6:c.*1701A= ENSP00000424548.1:n.*1701A=
NM_004628.4:c.2248A= , LRG_472t1:c.2248A= NP_004619.3:p.Lys750=
NR_027299.1:n.2228A=
XM_011534092.1:c.2248A= XP_011532394.1:p.Lys750=
NM_001354726.1:c.1669A= NP_001341655.1:p.Lys557=
NM_001354727.1:c.2242A= NP_001341656.1:p.Lys748=
NM_001354729.1:c.2230A= NP_001341658.1:p.Lys744=
NM_001354730.1:c.2002A= NP_001341659.1:p.Lys668=
NR_148950.1:n.2191A=
NR_148951.1:n.2067A=
XR_001740256.2:n.2281A=
XR_002959580.1:n.2281A=
XR_002959581.1:n.3898A=
NM_001354727.2:c.2242A= NP_001341656.1:p.Lys748=
NM_004628.5:c.2248A= MANE Select NP_004619.3:p.Lys750=
NR_148950.2:n.2120A=
NR_148951.2:n.1996A=
NM_001354726.2:c.1669A= NP_001341655.1:p.Lys557=
NM_001354729.2:c.2230A= NP_001341658.1:p.Lys744=
NM_001354730.2:c.2002A= NP_001341659.1:p.Lys668=