Canonical Allele Identifier: CA351536754

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145949G>A , CM000665.2:g.14145949G>A	GRCh38
NC_000003.11:g.14187449G>A , CM000665.1:g.14187449G>A	GRCh37
NC_000003.10:g.14162450G>A	NCBI36
NG_011763.1:g.37724C>T , LRG_472:g.37724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2815C>T MANE Select	ENSP00000285021.8:p.Gln939Ter
ENST00000285021.11:c.2815C>T	ENSP00000285021.7:p.Gln939Ter
ENST00000476581.6:c.*2268C>T	ENSP00000424548.1:n.*2268C>T
ENST00000601399.3:n.689+266G>A
ENST00000608606.1:c.598+266G>A
ENST00000626721.1:n.588+266G>A
NM_004628.4:c.2815C>T , LRG_472t1:c.2815C>T	NP_004619.3:p.Gln939Ter
NR_027299.1:n.2795C>T
NM_001354726.1:c.2236C>T	NP_001341655.1:p.Gln746Ter
NM_001354727.1:c.2809C>T	NP_001341656.1:p.Gln937Ter
NM_001354729.1:c.2797C>T	NP_001341658.1:p.Gln933Ter
NM_001354730.1:c.2569C>T	NP_001341659.1:p.Gln857Ter
NR_148950.1:n.2758C>T
NR_148951.1:n.2634C>T
XR_001740256.2:n.3122C>T
XR_002959580.1:n.3197C>T
XR_002959581.1:n.4465C>T
NM_001354727.2:c.2809C>T	NP_001341656.1:p.Gln937Ter
NM_004628.5:c.2815C>T MANE Select	NP_004619.3:p.Gln939Ter
NR_148950.2:n.2687C>T
NR_148951.2:n.2563C>T
NM_001354726.2:c.2236C>T	NP_001341655.1:p.Gln746Ter
NM_001354729.2:c.2797C>T	NP_001341658.1:p.Gln933Ter
NM_001354730.2:c.2569C>T	NP_001341659.1:p.Gln857Ter