Canonical Allele Identifier: CA351537804

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190137A>T (hg19) ; chr3:g.14148637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148637A>T , CM000665.2:g.14148637A>T	GRCh38
NC_000003.11:g.14190137A>T , CM000665.1:g.14190137A>T	GRCh37
NC_000003.10:g.14165138A>T	NCBI36
NG_011763.1:g.35036T>A , LRG_472:g.35036T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.2345T>A MANE Select	ENSP00000285021.8:p.Val782Glu
ENST00000285021.11:c.2345T>A	ENSP00000285021.7:p.Val782Glu
ENST00000427795.2:n.210T>A
ENST00000476581.6:c.*1798T>A	ENSP00000424548.1:n.*1798T>A
NM_004628.4:c.2345T>A , LRG_472t1:c.2345T>A	NP_004619.3:p.Val782Glu
NR_027299.1:n.2325T>A
XM_011534092.1:c.2345T>A	XP_011532394.1:p.Val782Glu
NM_001354726.1:c.1766T>A	NP_001341655.1:p.Val589Glu
NM_001354727.1:c.2339T>A	NP_001341656.1:p.Val780Glu
NM_001354729.1:c.2327T>A	NP_001341658.1:p.Val776Glu
NM_001354730.1:c.2099T>A	NP_001341659.1:p.Val700Glu
NR_148950.1:n.2288T>A
NR_148951.1:n.2164T>A
XR_001740256.2:n.2378T>A
XR_002959580.1:n.2378T>A
XR_002959581.1:n.3995T>A
NM_001354727.2:c.2339T>A	NP_001341656.1:p.Val780Glu
NM_004628.5:c.2345T>A MANE Select	NP_004619.3:p.Val782Glu
NR_148950.2:n.2217T>A
NR_148951.2:n.2093T>A
NM_001354726.2:c.1766T>A	NP_001341655.1:p.Val589Glu
NM_001354729.2:c.2327T>A	NP_001341658.1:p.Val776Glu
NM_001354730.2:c.2099T>A	NP_001341659.1:p.Val700Glu