Canonical Allele Identifier: CA351538078

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190345T>G (hg19) ; chr3:g.14148845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148845T>G , CM000665.2:g.14148845T>G	GRCh38
NC_000003.11:g.14190345T>G , CM000665.1:g.14190345T>G	GRCh37
NC_000003.10:g.14165346T>G	NCBI36
NG_011763.1:g.34828A>C , LRG_472:g.34828A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2219A>C MANE Select	ENSP00000285021.8:p.Glu740Ala
ENST00000285021.11:c.2219A>C	ENSP00000285021.7:p.Glu740Ala
ENST00000427795.2:n.84A>C
ENST00000476581.6:c.*1672A>C	ENSP00000424548.1:n.*1672A>C
NM_004628.4:c.2219A>C , LRG_472t1:c.2219A>C	NP_004619.3:p.Glu740Ala
NR_027299.1:n.2199A>C
XM_011534092.1:c.2219A>C	XP_011532394.1:p.Glu740Ala
NM_001354726.1:c.1640A>C	NP_001341655.1:p.Glu547Ala
NM_001354727.1:c.2213A>C	NP_001341656.1:p.Glu738Ala
NM_001354729.1:c.2201A>C	NP_001341658.1:p.Glu734Ala
NM_001354730.1:c.1973A>C	NP_001341659.1:p.Glu658Ala
NR_148950.1:n.2162A>C
NR_148951.1:n.2038A>C
XR_001740256.2:n.2252A>C
XR_002959580.1:n.2252A>C
XR_002959581.1:n.3869A>C
NM_001354727.2:c.2213A>C	NP_001341656.1:p.Glu738Ala
NM_004628.5:c.2219A>C MANE Select	NP_004619.3:p.Glu740Ala
NR_148950.2:n.2091A>C
NR_148951.2:n.1967A>C
NM_001354726.2:c.1640A>C	NP_001341655.1:p.Glu547Ala
NM_001354729.2:c.2201A>C	NP_001341658.1:p.Glu734Ala
NM_001354730.2:c.1973A>C	NP_001341659.1:p.Glu658Ala