Canonical Allele Identifier: CA351539242

Gene: XPC

Linked Data

• dbSNP Id: rs1196948222
• gnomAD v2: 3-14199685-C-T
• gnomAD v4: 3-14158185-C-T
• MyVariant Identifiers: chr3:g.14199685C>T (hg19) ; chr3:g.14158185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158185C>T , CM000665.2:g.14158185C>T	GRCh38
NC_000003.11:g.14199685C>T , CM000665.1:g.14199685C>T	GRCh37
NC_000003.10:g.14174687C>T	NCBI36
NG_011763.1:g.25488G>A , LRG_472:g.25488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1698G>A MANE Select	ENSP00000285021.8:p.Met566Ile
ENST00000285021.11:c.1698G>A	ENSP00000285021.7:p.Met566Ile
ENST00000476581.6:c.*1151G>A	ENSP00000424548.1:n.*1151G>A
NM_004628.4:c.1698G>A , LRG_472t1:c.1698G>A	NP_004619.3:p.Met566Ile
NR_027299.1:n.1678G>A
XM_011534092.1:c.1698G>A	XP_011532394.1:p.Met566Ile
XM_011534093.1:c.1698G>A	XP_011532395.1:p.Met566Ile
NM_001354726.1:c.1119G>A	NP_001341655.1:p.Met373Ile
NM_001354727.1:c.1698G>A	NP_001341656.1:p.Met566Ile
NM_001354729.1:c.1680G>A	NP_001341658.1:p.Met560Ile
NM_001354730.1:c.1626+72G>A	NP_001341659.1:n.1626+72G>A
NR_148950.1:n.1802G>A
NR_148951.1:n.1678G>A
XR_001740256.2:n.1731G>A
XR_002959580.1:n.1731G>A
XR_002959581.1:n.1731G>A
NM_001354727.2:c.1698G>A	NP_001341656.1:p.Met566Ile
NM_004628.5:c.1698G>A MANE Select	NP_004619.3:p.Met566Ile
NR_148950.2:n.1731G>A
NR_148951.2:n.1607G>A
NM_001354726.2:c.1119G>A	NP_001341655.1:p.Met373Ile
NM_001354729.2:c.1680G>A	NP_001341658.1:p.Met560Ile
NM_001354730.2:c.1626+72G>A	NP_001341659.1:n.1626+72G>A