Canonical Allele Identifier: CA351538080

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148846C>A , CM000665.2:g.14148846C>A	GRCh38
NC_000003.11:g.14190346C>A , CM000665.1:g.14190346C>A	GRCh37
NC_000003.10:g.14165347C>A	NCBI36
NG_011763.1:g.34827G>T , LRG_472:g.34827G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2218G>T MANE Select	NP_004619.3:p.Glu740Ter
ENST00000285021.12:c.2218G>T MANE Select	ENSP00000285021.8:p.Glu740Ter
NM_001354726.1:c.1639G>T	NP_001341655.1:p.Glu547Ter
NM_001354726.2:c.1639G>T	NP_001341655.1:p.Glu547Ter
NM_001354727.1:c.2212G>T	NP_001341656.1:p.Glu738Ter
NM_001354727.2:c.2212G>T	NP_001341656.1:p.Glu738Ter
NM_001354729.1:c.2200G>T	NP_001341658.1:p.Glu734Ter
NM_001354729.2:c.2200G>T	NP_001341658.1:p.Glu734Ter
NM_001354730.1:c.1972G>T	NP_001341659.1:p.Glu658Ter
NM_001354730.2:c.1972G>T	NP_001341659.1:p.Glu658Ter
NM_004628.4:c.2218G>T , LRG_472t1:c.2218G>T	NP_004619.3:p.Glu740Ter
NR_027299.1:n.2198G>T
NR_148950.1:n.2161G>T
NR_148950.2:n.2090G>T
NR_148951.1:n.2037G>T
NR_148951.2:n.1966G>T
ENST00000285021.11:c.2218G>T	ENSP00000285021.7:p.Glu740Ter
ENST00000427795.2:n.83G>T
ENST00000476581.6:c.*1671G>T	ENSP00000424548.1:n.*1671G>T
XM_011534092.1:c.2218G>T	XP_011532394.1:p.Glu740Ter
XR_001740256.2:n.2251G>T
XR_002959580.1:n.2251G>T
XR_002959581.1:n.3868G>T