Canonical Allele Identifier: CA432813620

Gene: XPC

Linked Data

• COSMIC: COSM1484693
• MyVariant Identifiers: chr3:g.14190419C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148919C>T , CM000665.2:g.14148919C>T	GRCh38
NC_000003.11:g.14190419C>T , CM000665.1:g.14190419C>T	GRCh37
NC_000003.10:g.14165420C>T	NCBI36
NG_011763.1:g.34754G>A , LRG_472:g.34754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2145G>A MANE Select	ENSP00000285021.8:p.Arg715=
ENST00000285021.11:c.2145G>A	ENSP00000285021.7:p.Arg715=
ENST00000427795.2:n.10G>A
ENST00000476581.6:c.*1598G>A	ENSP00000424548.1:n.*1598G>A
NM_004628.4:c.2145G>A , LRG_472t1:c.2145G>A	NP_004619.3:p.Arg715=
NR_027299.1:n.2125G>A
XM_011534092.1:c.2145G>A	XP_011532394.1:p.Arg715=
NM_001354726.1:c.1566G>A	NP_001341655.1:p.Arg522=
NM_001354727.1:c.2139G>A	NP_001341656.1:p.Arg713=
NM_001354729.1:c.2127G>A	NP_001341658.1:p.Arg709=
NM_001354730.1:c.1899G>A	NP_001341659.1:p.Arg633=
NR_148950.1:n.2088G>A
NR_148951.1:n.1964G>A
XR_001740256.2:n.2178G>A
XR_002959580.1:n.2178G>A
XR_002959581.1:n.3795G>A
NM_001354727.2:c.2139G>A	NP_001341656.1:p.Arg713=
NM_004628.5:c.2145G>A MANE Select	NP_004619.3:p.Arg715=
NR_148950.2:n.2017G>A
NR_148951.2:n.1893G>A
NM_001354726.2:c.1566G>A	NP_001341655.1:p.Arg522=
NM_001354729.2:c.2127G>A	NP_001341658.1:p.Arg709=
NM_001354730.2:c.1899G>A	NP_001341659.1:p.Arg633=