Canonical Allele Identifier: CA251398

Gene: XPC

Linked Data

• ClinVar Variation Id: 261
• ClinVar RCV Id: RCV000000285 ; RCV002292452
• dbSNP Id: rs794729657
• MyVariant Identifiers: chr3:g.14209904T>C (hg19) ; chr3:g.14168404T>C (hg38)
• PubMed: PMID:14662655

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14168404T>C , CM000665.2:g.14168404T>C	GRCh38
NC_000003.11:g.14209904T>C , CM000665.1:g.14209904T>C	GRCh37
NC_000003.10:g.14184908T>C	NCBI36
NG_011763.1:g.15269A>G , LRG_472:g.15269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.413-24A>G MANE Select	ENSP00000285021.8:n.413-24A>G
ENST00000285021.11:c.413-24A>G	ENSP00000285021.7:n.413-24A>G
ENST00000452172.1:n.178-24A>G
ENST00000455144.6:n.24-24A>G
ENST00000476581.6:c.413-1151A>G	ENSP00000424548.1:n.413-1151A>G
ENST00000511155.1:c.395-24A>G	ENSP00000423867.1:n.395-24A>G
NM_004628.4:c.413-24A>G , LRG_472t1:c.413-24A>G	NP_004619.3:n.413-24A>G
NR_027299.1:n.517-1151A>G
XM_011534092.1:c.413-24A>G	XP_011532394.1:n.413-24A>G
XM_011534093.1:c.413-24A>G	XP_011532395.1:n.413-24A>G
NM_001354726.1:c.-43-1151A>G	NP_001341655.1:n.-43-1151A>G
NM_001354727.1:c.413-24A>G	NP_001341656.1:n.413-24A>G
NM_001354729.1:c.395-24A>G	NP_001341658.1:n.395-24A>G
NM_001354730.1:c.413-24A>G	NP_001341659.1:n.413-24A>G
NR_148950.1:n.517-24A>G
NR_148951.1:n.517-1151A>G
XR_001740256.2:n.446-24A>G
XR_002959580.1:n.446-24A>G
XR_002959581.1:n.446-24A>G
NM_001354727.2:c.413-24A>G	NP_001341656.1:n.413-24A>G
NM_004628.5:c.413-24A>G MANE Select	NP_004619.3:n.413-24A>G
NR_148950.2:n.446-24A>G
NR_148951.2:n.446-1151A>G
NM_001354726.2:c.-43-1151A>G	NP_001341655.1:n.-43-1151A>G
NM_001354729.2:c.395-24A>G	NP_001341658.1:n.395-24A>G
NM_001354730.2:c.413-24A>G	NP_001341659.1:n.413-24A>G