Canonical Allele Identifier: CA2267204
Gene: XPC HGNC NCBI

Linked Data

dbSNP Id: rs771531637
gnomAD v2: 3-14190242-T-G
gnomAD v3: 3-14148742-T-G
gnomAD v4: 3-14148742-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148742T>G , CM000665.2:g.14148742T>G GRCh38
NC_000003.11:g.14190242T>G , CM000665.1:g.14190242T>G GRCh37
NC_000003.10:g.14165243T>G NCBI36
NG_011763.1:g.34931A>C , LRG_472:g.34931A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2251-11A>C MANE Select ENSP00000285021.8:n.2251-11A>C
ENST00000285021.11:c.2251-11A>C ENSP00000285021.7:n.2251-11A>C
ENST00000427795.2:n.116-11A>C
ENST00000476581.6:c.*1704-11A>C ENSP00000424548.1:n.*1704-11A>C
NM_004628.4:c.2251-11A>C , LRG_472t1:c.2251-11A>C NP_004619.3:n.2251-11A>C
NR_027299.1:n.2231-11A>C
XM_011534092.1:c.2251-11A>C XP_011532394.1:n.2251-11A>C
NM_001354726.1:c.1672-11A>C NP_001341655.1:n.1672-11A>C
NM_001354727.1:c.2245-11A>C NP_001341656.1:n.2245-11A>C
NM_001354729.1:c.2233-11A>C NP_001341658.1:n.2233-11A>C
NM_001354730.1:c.2005-11A>C NP_001341659.1:n.2005-11A>C
NR_148950.1:n.2194-11A>C
NR_148951.1:n.2070-11A>C
XR_001740256.2:n.2284-11A>C
XR_002959580.1:n.2284-11A>C
XR_002959581.1:n.3901-11A>C
NM_001354727.2:c.2245-11A>C NP_001341656.1:n.2245-11A>C
NM_004628.5:c.2251-11A>C MANE Select NP_004619.3:n.2251-11A>C
NR_148950.2:n.2123-11A>C
NR_148951.2:n.1999-11A>C
NM_001354726.2:c.1672-11A>C NP_001341655.1:n.1672-11A>C
NM_001354729.2:c.2233-11A>C NP_001341658.1:n.2233-11A>C
NM_001354730.2:c.2005-11A>C NP_001341659.1:n.2005-11A>C