Canonical Allele Identifier: CA351537775
Gene: XPC HGNC NCBI

Linked Data

gnomAD v4: 3-14148622-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148622T>C , CM000665.2:g.14148622T>C GRCh38
NC_000003.11:g.14190122T>C , CM000665.1:g.14190122T>C GRCh37
NC_000003.10:g.14165123T>C NCBI36
NG_011763.1:g.35051A>G , LRG_472:g.35051A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2360A>G MANE Select ENSP00000285021.8:p.Asp787Gly
ENST00000285021.11:c.2360A>G ENSP00000285021.7:p.Asp787Gly
ENST00000427795.2:n.225A>G
ENST00000476581.6:c.*1813A>G ENSP00000424548.1:n.*1813A>G
NM_004628.4:c.2360A>G , LRG_472t1:c.2360A>G NP_004619.3:p.Asp787Gly
NR_027299.1:n.2340A>G
XM_011534092.1:c.2360A>G XP_011532394.1:p.Asp787Gly
NM_001354726.1:c.1781A>G NP_001341655.1:p.Asp594Gly
NM_001354727.1:c.2354A>G NP_001341656.1:p.Asp785Gly
NM_001354729.1:c.2342A>G NP_001341658.1:p.Asp781Gly
NM_001354730.1:c.2114A>G NP_001341659.1:p.Asp705Gly
NR_148950.1:n.2303A>G
NR_148951.1:n.2179A>G
XR_001740256.2:n.2393A>G
XR_002959580.1:n.2393A>G
XR_002959581.1:n.4010A>G
NM_001354727.2:c.2354A>G NP_001341656.1:p.Asp785Gly
NM_004628.5:c.2360A>G MANE Select NP_004619.3:p.Asp787Gly
NR_148950.2:n.2232A>G
NR_148951.2:n.2108A>G
NM_001354726.2:c.1781A>G NP_001341655.1:p.Asp594Gly
NM_001354729.2:c.2342A>G NP_001341658.1:p.Asp781Gly
NM_001354730.2:c.2114A>G NP_001341659.1:p.Asp705Gly