Canonical Allele Identifier: CA541676356

Gene: XPC

Linked Data

• dbSNP Id: rs1286162615
• gnomAD v2: 3-14190032-T-C
• gnomAD v4: 3-14148532-T-C
• MyVariant Identifiers: chr3:g.14190032T>C (hg19) ; chr3:g.14148532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148532T>C , CM000665.2:g.14148532T>C	GRCh38
NC_000003.11:g.14190032T>C , CM000665.1:g.14190032T>C	GRCh37
NC_000003.10:g.14165033T>C	NCBI36
NG_011763.1:g.35141A>G , LRG_472:g.35141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+30A>G MANE Select	ENSP00000285021.8:n.2420+30A>G
ENST00000285021.11:c.2420+30A>G	ENSP00000285021.7:n.2420+30A>G
ENST00000427795.2:n.285+30A>G
ENST00000476581.6:c.*1873+30A>G	ENSP00000424548.1:n.*1873+30A>G
NM_004628.4:c.2420+30A>G , LRG_472t1:c.2420+30A>G	NP_004619.3:n.2420+30A>G
NR_027299.1:n.2400+30A>G
XM_011534092.1:c.2420+30A>G	XP_011532394.1:n.2420+30A>G
NM_001354726.1:c.1841+30A>G	NP_001341655.1:n.1841+30A>G
NM_001354727.1:c.2414+30A>G	NP_001341656.1:n.2414+30A>G
NM_001354729.1:c.2402+30A>G	NP_001341658.1:n.2402+30A>G
NM_001354730.1:c.2174+30A>G	NP_001341659.1:n.2174+30A>G
NR_148950.1:n.2363+30A>G
NR_148951.1:n.2239+30A>G
XR_001740256.2:n.2453+30A>G
XR_002959580.1:n.2453+30A>G
XR_002959581.1:n.4070+30A>G
NM_001354727.2:c.2414+30A>G	NP_001341656.1:n.2414+30A>G
NM_004628.5:c.2420+30A>G MANE Select	NP_004619.3:n.2420+30A>G
NR_148950.2:n.2292+30A>G
NR_148951.2:n.2168+30A>G
NM_001354726.2:c.1841+30A>G	NP_001341655.1:n.1841+30A>G
NM_001354729.2:c.2402+30A>G	NP_001341658.1:n.2402+30A>G
NM_001354730.2:c.2174+30A>G	NP_001341659.1:n.2174+30A>G