Canonical Allele Identifier: CA1346950688
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148720G= , CM000665.2:g.14148720G= GRCh38
NC_000003.11:g.14190220G= , CM000665.1:g.14190220G= GRCh37
NC_000003.10:g.14165221G= NCBI36
NG_011763.1:g.34953C= , LRG_472:g.34953C=

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.2262C= MANE Select NP_004619.3:p.Asn754=
ENST00000285021.12:c.2262C= MANE Select ENSP00000285021.8:p.Asn754=
NM_001354726.1:c.1683C= NP_001341655.1:p.Asn561=
NM_001354726.2:c.1683C= NP_001341655.1:p.Asn561=
NM_001354727.1:c.2256C= NP_001341656.1:p.Asn752=
NM_001354727.2:c.2256C= NP_001341656.1:p.Asn752=
NM_001354729.1:c.2244C= NP_001341658.1:p.Asn748=
NM_001354729.2:c.2244C= NP_001341658.1:p.Asn748=
NM_001354730.1:c.2016C= NP_001341659.1:p.Asn672=
NM_001354730.2:c.2016C= NP_001341659.1:p.Asn672=
NM_004628.4:c.2262C= , LRG_472t1:c.2262C= NP_004619.3:p.Asn754=
NR_027299.1:n.2242C=
NR_148950.1:n.2205C=
NR_148950.2:n.2134C=
NR_148951.1:n.2081C=
NR_148951.2:n.2010C=
ENST00000285021.11:c.2262C= ENSP00000285021.7:p.Asn754=
ENST00000427795.2:n.127C=
ENST00000476581.6:c.*1715C= ENSP00000424548.1:n.*1715C=
XM_011534092.1:c.2262C= XP_011532394.1:p.Asn754=
XR_001740256.2:n.2295C=
XR_002959580.1:n.2295C=
XR_002959581.1:n.3912C=