Canonical Allele Identifier: CA162916
Gene: XPC HGNC NCBI

Linked Data

ClinVar Variation Id: 135486
dbSNP Id: rs183238369
gnomAD v2: 3-14199603-G-A
gnomAD v3: 3-14158103-G-A
gnomAD v4: 3-14158103-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158103G>A , CM000665.2:g.14158103G>A GRCh38
NC_000003.11:g.14199603G>A , CM000665.1:g.14199603G>A GRCh37
NC_000003.10:g.14174605G>A NCBI36
NG_011763.1:g.25570C>T , LRG_472:g.25570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.1780C>T MANE Select ENSP00000285021.8:p.Arg594Cys
ENST00000285021.11:c.1780C>T ENSP00000285021.7:p.Arg594Cys
ENST00000476581.6:c.*1233C>T ENSP00000424548.1:n.*1233C>T
NM_004628.4:c.1780C>T , LRG_472t1:c.1780C>T NP_004619.3:p.Arg594Cys
NR_027299.1:n.1760C>T
XM_011534092.1:c.1780C>T XP_011532394.1:p.Arg594Cys
XM_011534093.1:c.1780C>T XP_011532395.1:p.Arg594Cys
NM_001354726.1:c.1201C>T NP_001341655.1:p.Arg401Cys
NM_001354727.1:c.1780C>T NP_001341656.1:p.Arg594Cys
NM_001354729.1:c.1762C>T NP_001341658.1:p.Arg588Cys
NM_001354730.1:c.1626+154C>T NP_001341659.1:n.1626+154C>T
NR_148950.1:n.1884C>T
NR_148951.1:n.1760C>T
XR_001740256.2:n.1813C>T
XR_002959580.1:n.1813C>T
XR_002959581.1:n.1813C>T
NM_001354727.2:c.1780C>T NP_001341656.1:p.Arg594Cys
NM_004628.5:c.1780C>T MANE Select NP_004619.3:p.Arg594Cys
NR_148950.2:n.1813C>T
NR_148951.2:n.1689C>T
NM_001354726.2:c.1201C>T NP_001341655.1:p.Arg401Cys
NM_001354729.2:c.1762C>T NP_001341658.1:p.Arg588Cys
NM_001354730.2:c.1626+154C>T NP_001341659.1:n.1626+154C>T