Canonical Allele Identifier: CA432813548

Gene: XPC

Linked Data

• dbSNP Id: rs1406745023
• gnomAD v3: 3-14148606-C-T
• gnomAD v4: 3-14148606-C-T
• MyVariant Identifiers: chr3:g.14190106C>T (hg19) ; chr3:g.14148606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148606C>T , CM000665.2:g.14148606C>T	GRCh38
NC_000003.11:g.14190106C>T , CM000665.1:g.14190106C>T	GRCh37
NC_000003.10:g.14165107C>T	NCBI36
NG_011763.1:g.35067G>A , LRG_472:g.35067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2376G>A MANE Select	ENSP00000285021.8:p.Gln792=
ENST00000285021.11:c.2376G>A	ENSP00000285021.7:p.Gln792=
ENST00000427795.2:n.241G>A
ENST00000476581.6:c.*1829G>A	ENSP00000424548.1:n.*1829G>A
NM_004628.4:c.2376G>A , LRG_472t1:c.2376G>A	NP_004619.3:p.Gln792=
NR_027299.1:n.2356G>A
XM_011534092.1:c.2376G>A	XP_011532394.1:p.Gln792=
NM_001354726.1:c.1797G>A	NP_001341655.1:p.Gln599=
NM_001354727.1:c.2370G>A	NP_001341656.1:p.Gln790=
NM_001354729.1:c.2358G>A	NP_001341658.1:p.Gln786=
NM_001354730.1:c.2130G>A	NP_001341659.1:p.Gln710=
NR_148950.1:n.2319G>A
NR_148951.1:n.2195G>A
XR_001740256.2:n.2409G>A
XR_002959580.1:n.2409G>A
XR_002959581.1:n.4026G>A
NM_001354727.2:c.2370G>A	NP_001341656.1:p.Gln790=
NM_004628.5:c.2376G>A MANE Select	NP_004619.3:p.Gln792=
NR_148950.2:n.2248G>A
NR_148951.2:n.2124G>A
NM_001354726.2:c.1797G>A	NP_001341655.1:p.Gln599=
NM_001354729.2:c.2358G>A	NP_001341658.1:p.Gln786=
NM_001354730.2:c.2130G>A	NP_001341659.1:p.Gln710=