Canonical Allele Identifier: CA162865

Gene: XPC

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14152389C>T , CM000665.2:g.14152389C>T	GRCh38
NC_000003.11:g.14193889C>T , CM000665.1:g.14193889C>T	GRCh37
NC_000003.10:g.14168890C>T	NCBI36
NG_011763.1:g.31284G>A , LRG_472:g.31284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2061G>A MANE Select	ENSP00000285021.8:p.Arg687=
ENST00000285021.11:c.2061G>A	ENSP00000285021.7:p.Arg687=
ENST00000476581.6:c.*1514G>A	ENSP00000424548.1:n.*1514G>A
NM_004628.4:c.2061G>A , LRG_472t1:c.2061G>A	NP_004619.3:p.Arg687=
NR_027299.1:n.2041G>A
XM_011534092.1:c.2061G>A	XP_011532394.1:p.Arg687=
NM_001354726.1:c.1482G>A	NP_001341655.1:p.Arg494=
NM_001354727.1:c.2055G>A	NP_001341656.1:p.Arg685=
NM_001354729.1:c.2043G>A	NP_001341658.1:p.Arg681=
NM_001354730.1:c.1815G>A	NP_001341659.1:p.Arg605=
NR_148950.1:n.2004G>A
NR_148951.1:n.1880G>A
XR_001740256.2:n.2094G>A
XR_002959580.1:n.2094G>A
XR_002959581.1:n.3711G>A
NM_001354727.2:c.2055G>A	NP_001341656.1:p.Arg685=
NM_004628.5:c.2061G>A MANE Select	NP_004619.3:p.Arg687=
NR_148950.2:n.1933G>A
NR_148951.2:n.1809G>A
NM_001354726.2:c.1482G>A	NP_001341655.1:p.Arg494=
NM_001354729.2:c.2043G>A	NP_001341658.1:p.Arg681=
NM_001354730.2:c.1815G>A	NP_001341659.1:p.Arg605=