Canonical Allele Identifier: CA2267272

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14152362C>T , CM000665.2:g.14152362C>T	GRCh38
NC_000003.11:g.14193862C>T , CM000665.1:g.14193862C>T	GRCh37
NC_000003.10:g.14168863C>T	NCBI36
NG_011763.1:g.31311G>A , LRG_472:g.31311G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2088G>A MANE Select	NP_004619.3:p.Val696=
ENST00000285021.12:c.2088G>A MANE Select	ENSP00000285021.8:p.Val696=
NM_001354726.1:c.1509G>A	NP_001341655.1:p.Val503=
NM_001354726.2:c.1509G>A	NP_001341655.1:p.Val503=
NM_001354727.1:c.2082G>A	NP_001341656.1:p.Val694=
NM_001354727.2:c.2082G>A	NP_001341656.1:p.Val694=
NM_001354729.1:c.2070G>A	NP_001341658.1:p.Val690=
NM_001354729.2:c.2070G>A	NP_001341658.1:p.Val690=
NM_001354730.1:c.1842G>A	NP_001341659.1:p.Val614=
NM_001354730.2:c.1842G>A	NP_001341659.1:p.Val614=
NM_004628.4:c.2088G>A , LRG_472t1:c.2088G>A	NP_004619.3:p.Val696=
NR_027299.1:n.2068G>A
NR_148950.1:n.2031G>A
NR_148950.2:n.1960G>A
NR_148951.1:n.1907G>A
NR_148951.2:n.1836G>A
ENST00000285021.11:c.2088G>A	ENSP00000285021.7:p.Val696=
ENST00000476581.6:c.*1541G>A	ENSP00000424548.1:n.*1541G>A
XM_011534092.1:c.2088G>A	XP_011532394.1:p.Val696=
XR_001740256.2:n.2121G>A
XR_002959580.1:n.2121G>A
XR_002959581.1:n.3738G>A