Canonical Allele Identifier: CA351539167

Gene: XPC

Linked Data

• dbSNP Id: rs1330047294
• gnomAD v2: 3-14199651-C-T
• gnomAD v4: 3-14158151-C-T
• MyVariant Identifiers: chr3:g.14199651C>T (hg19) ; chr3:g.14158151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158151C>T , CM000665.2:g.14158151C>T	GRCh38
NC_000003.11:g.14199651C>T , CM000665.1:g.14199651C>T	GRCh37
NC_000003.10:g.14174653C>T	NCBI36
NG_011763.1:g.25522G>A , LRG_472:g.25522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1732G>A MANE Select	ENSP00000285021.8:p.Val578Ile
ENST00000285021.11:c.1732G>A	ENSP00000285021.7:p.Val578Ile
ENST00000476581.6:c.*1185G>A	ENSP00000424548.1:n.*1185G>A
NM_004628.4:c.1732G>A , LRG_472t1:c.1732G>A	NP_004619.3:p.Val578Ile
NR_027299.1:n.1712G>A
XM_011534092.1:c.1732G>A	XP_011532394.1:p.Val578Ile
XM_011534093.1:c.1732G>A	XP_011532395.1:p.Val578Ile
NM_001354726.1:c.1153G>A	NP_001341655.1:p.Val385Ile
NM_001354727.1:c.1732G>A	NP_001341656.1:p.Val578Ile
NM_001354729.1:c.1714G>A	NP_001341658.1:p.Val572Ile
NM_001354730.1:c.1626+106G>A	NP_001341659.1:n.1626+106G>A
NR_148950.1:n.1836G>A
NR_148951.1:n.1712G>A
XR_001740256.2:n.1765G>A
XR_002959580.1:n.1765G>A
XR_002959581.1:n.1765G>A
NM_001354727.2:c.1732G>A	NP_001341656.1:p.Val578Ile
NM_004628.5:c.1732G>A MANE Select	NP_004619.3:p.Val578Ile
NR_148950.2:n.1765G>A
NR_148951.2:n.1641G>A
NM_001354726.2:c.1153G>A	NP_001341655.1:p.Val385Ile
NM_001354729.2:c.1714G>A	NP_001341658.1:p.Val572Ile
NM_001354730.2:c.1626+106G>A	NP_001341659.1:n.1626+106G>A