Canonical Allele Identifier: CA2267360
Gene: XPC HGNC NCBI

Linked Data

dbSNP Id: rs763740883
gnomAD v2: 3-14199593-C-T
gnomAD v3: 3-14158093-C-T
gnomAD v4: 3-14158093-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158093C>T , CM000665.2:g.14158093C>T GRCh38
NC_000003.11:g.14199593C>T , CM000665.1:g.14199593C>T GRCh37
NC_000003.10:g.14174595C>T NCBI36
NG_011763.1:g.25580G>A , LRG_472:g.25580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.1790G>A MANE Select ENSP00000285021.8:p.Arg597Gln
ENST00000285021.11:c.1790G>A ENSP00000285021.7:p.Arg597Gln
ENST00000476581.6:c.*1243G>A ENSP00000424548.1:n.*1243G>A
NM_004628.4:c.1790G>A , LRG_472t1:c.1790G>A NP_004619.3:p.Arg597Gln
NR_027299.1:n.1770G>A
XM_011534092.1:c.1790G>A XP_011532394.1:p.Arg597Gln
XM_011534093.1:c.1790G>A XP_011532395.1:p.Arg597Gln
NM_001354726.1:c.1211G>A NP_001341655.1:p.Arg404Gln
NM_001354727.1:c.1790G>A NP_001341656.1:p.Arg597Gln
NM_001354729.1:c.1772G>A NP_001341658.1:p.Arg591Gln
NM_001354730.1:c.1626+164G>A NP_001341659.1:n.1626+164G>A
NR_148950.1:n.1894G>A
NR_148951.1:n.1770G>A
XR_001740256.2:n.1823G>A
XR_002959580.1:n.1823G>A
XR_002959581.1:n.1823G>A
NM_001354727.2:c.1790G>A NP_001341656.1:p.Arg597Gln
NM_004628.5:c.1790G>A MANE Select NP_004619.3:p.Arg597Gln
NR_148950.2:n.1823G>A
NR_148951.2:n.1699G>A
NM_001354726.2:c.1211G>A NP_001341655.1:p.Arg404Gln
NM_001354729.2:c.1772G>A NP_001341658.1:p.Arg591Gln
NM_001354730.2:c.1626+164G>A NP_001341659.1:n.1626+164G>A