Canonical Allele Identifier: CA351538191

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190397G>A (hg19) ; chr3:g.14148897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148897G>A , CM000665.2:g.14148897G>A	GRCh38
NC_000003.11:g.14190397G>A , CM000665.1:g.14190397G>A	GRCh37
NC_000003.10:g.14165398G>A	NCBI36
NG_011763.1:g.34776C>T , LRG_472:g.34776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2167C>T MANE Select	ENSP00000285021.8:p.Gln723Ter
ENST00000285021.11:c.2167C>T	ENSP00000285021.7:p.Gln723Ter
ENST00000427795.2:n.32C>T
ENST00000476581.6:c.*1620C>T	ENSP00000424548.1:n.*1620C>T
NM_004628.4:c.2167C>T , LRG_472t1:c.2167C>T	NP_004619.3:p.Gln723Ter
NR_027299.1:n.2147C>T
XM_011534092.1:c.2167C>T	XP_011532394.1:p.Gln723Ter
NM_001354726.1:c.1588C>T	NP_001341655.1:p.Gln530Ter
NM_001354727.1:c.2161C>T	NP_001341656.1:p.Gln721Ter
NM_001354729.1:c.2149C>T	NP_001341658.1:p.Gln717Ter
NM_001354730.1:c.1921C>T	NP_001341659.1:p.Gln641Ter
NR_148950.1:n.2110C>T
NR_148951.1:n.1986C>T
XR_001740256.2:n.2200C>T
XR_002959580.1:n.2200C>T
XR_002959581.1:n.3817C>T
NM_001354727.2:c.2161C>T	NP_001341656.1:p.Gln721Ter
NM_004628.5:c.2167C>T MANE Select	NP_004619.3:p.Gln723Ter
NR_148950.2:n.2039C>T
NR_148951.2:n.1915C>T
NM_001354726.2:c.1588C>T	NP_001341655.1:p.Gln530Ter
NM_001354729.2:c.2149C>T	NP_001341658.1:p.Gln717Ter
NM_001354730.2:c.1921C>T	NP_001341659.1:p.Gln641Ter