Canonical Allele Identifier: CA2267168

Gene: XPC

Linked Data

• dbSNP Id: rs761877857
• ExAC: 3:14190081 C / T
• gnomAD v2: 3-14190081-C-T
• MyVariant Identifiers: chr3:g.14190081C>T (hg19) ; chr3:g.14148581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148581C>T , CM000665.2:g.14148581C>T	GRCh38
NC_000003.11:g.14190081C>T , CM000665.1:g.14190081C>T	GRCh37
NC_000003.10:g.14165082C>T	NCBI36
NG_011763.1:g.35092G>A , LRG_472:g.35092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2401G>A MANE Select	ENSP00000285021.8:p.Gly801Ser
ENST00000285021.11:c.2401G>A	ENSP00000285021.7:p.Gly801Ser
ENST00000427795.2:n.266G>A
ENST00000476581.6:c.*1854G>A	ENSP00000424548.1:n.*1854G>A
NM_004628.4:c.2401G>A , LRG_472t1:c.2401G>A	NP_004619.3:p.Gly801Ser
NR_027299.1:n.2381G>A
XM_011534092.1:c.2401G>A	XP_011532394.1:p.Gly801Ser
NM_001354726.1:c.1822G>A	NP_001341655.1:p.Gly608Ser
NM_001354727.1:c.2395G>A	NP_001341656.1:p.Gly799Ser
NM_001354729.1:c.2383G>A	NP_001341658.1:p.Gly795Ser
NM_001354730.1:c.2155G>A	NP_001341659.1:p.Gly719Ser
NR_148950.1:n.2344G>A
NR_148951.1:n.2220G>A
XR_001740256.2:n.2434G>A
XR_002959580.1:n.2434G>A
XR_002959581.1:n.4051G>A
NM_001354727.2:c.2395G>A	NP_001341656.1:p.Gly799Ser
NM_004628.5:c.2401G>A MANE Select	NP_004619.3:p.Gly801Ser
NR_148950.2:n.2273G>A
NR_148951.2:n.2149G>A
NM_001354726.2:c.1822G>A	NP_001341655.1:p.Gly608Ser
NM_001354729.2:c.2383G>A	NP_001341658.1:p.Gly795Ser
NM_001354730.2:c.2155G>A	NP_001341659.1:p.Gly719Ser