Canonical Allele Identifier: CA11467752
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14146210T>C , CM000665.2:g.14146210T>C GRCh38
NC_000003.11:g.14187710T>C , CM000665.1:g.14187710T>C GRCh37
NC_000003.10:g.14162711T>C NCBI36
NG_011763.1:g.37463A>G , LRG_472:g.37463A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.2605-51A>G MANE Select NP_004619.3:n.2605-51A>G
ENST00000285021.12:c.2605-51A>G MANE Select ENSP00000285021.8:n.2605-51A>G
NM_001354726.1:c.2026-51A>G NP_001341655.1:n.2026-51A>G
NM_001354726.2:c.2026-51A>G NP_001341655.1:n.2026-51A>G
NM_001354727.1:c.2599-51A>G NP_001341656.1:n.2599-51A>G
NM_001354727.2:c.2599-51A>G NP_001341656.1:n.2599-51A>G
NM_001354729.1:c.2587-51A>G NP_001341658.1:n.2587-51A>G
NM_001354729.2:c.2587-51A>G NP_001341658.1:n.2587-51A>G
NM_001354730.1:c.2359-51A>G NP_001341659.1:n.2359-51A>G
NM_001354730.2:c.2359-51A>G NP_001341659.1:n.2359-51A>G
NM_004628.4:c.2605-51A>G , LRG_472t1:c.2605-51A>G NP_004619.3:n.2605-51A>G
NR_027299.1:n.2585-51A>G
NR_148950.1:n.2548-51A>G
NR_148950.2:n.2477-51A>G
NR_148951.1:n.2424-51A>G
NR_148951.2:n.2353-51A>G
ENST00000285021.11:c.2605-51A>G ENSP00000285021.7:n.2605-51A>G
ENST00000476581.6:c.*2058-51A>G ENSP00000424548.1:n.*2058-51A>G
ENST00000601399.3:n.689+527T>C
ENST00000608606.1:c.598+527T>C
ENST00000626721.1:n.588+527T>C
XR_001740256.2:n.2912-51A>G
XR_002959580.1:n.2987-51A>G
XR_002959581.1:n.4255-51A>G