Canonical Allele Identifier: CA351537978

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148719C>A , CM000665.2:g.14148719C>A	GRCh38
NC_000003.11:g.14190219C>A , CM000665.1:g.14190219C>A	GRCh37
NC_000003.10:g.14165220C>A	NCBI36
NG_011763.1:g.34954G>T , LRG_472:g.34954G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2263G>T MANE Select	NP_004619.3:p.Glu755Ter
ENST00000285021.12:c.2263G>T MANE Select	ENSP00000285021.8:p.Glu755Ter
NM_001354726.1:c.1684G>T	NP_001341655.1:p.Glu562Ter
NM_001354726.2:c.1684G>T	NP_001341655.1:p.Glu562Ter
NM_001354727.1:c.2257G>T	NP_001341656.1:p.Glu753Ter
NM_001354727.2:c.2257G>T	NP_001341656.1:p.Glu753Ter
NM_001354729.1:c.2245G>T	NP_001341658.1:p.Glu749Ter
NM_001354729.2:c.2245G>T	NP_001341658.1:p.Glu749Ter
NM_001354730.1:c.2017G>T	NP_001341659.1:p.Glu673Ter
NM_001354730.2:c.2017G>T	NP_001341659.1:p.Glu673Ter
NM_004628.4:c.2263G>T , LRG_472t1:c.2263G>T	NP_004619.3:p.Glu755Ter
NR_027299.1:n.2243G>T
NR_148950.1:n.2206G>T
NR_148950.2:n.2135G>T
NR_148951.1:n.2082G>T
NR_148951.2:n.2011G>T
ENST00000285021.11:c.2263G>T	ENSP00000285021.7:p.Glu755Ter
ENST00000427795.2:n.128G>T
ENST00000476581.6:c.*1716G>T	ENSP00000424548.1:n.*1716G>T
XM_011534092.1:c.2263G>T	XP_011532394.1:p.Glu755Ter
XR_001740256.2:n.2296G>T
XR_002959580.1:n.2296G>T
XR_002959581.1:n.3913G>T