Canonical Allele Identifier: CA69741321

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14147379T>A , CM000665.2:g.14147379T>A	GRCh38
NC_000003.11:g.14188879T>A , CM000665.1:g.14188879T>A	GRCh37
NC_000003.10:g.14163880T>A	NCBI36
NG_011763.1:g.36294A>T , LRG_472:g.36294A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2515A>T MANE Select	NP_004619.3:p.Lys839Ter
ENST00000285021.12:c.2515A>T MANE Select	ENSP00000285021.8:p.Lys839Ter
NM_001354726.1:c.1936A>T	NP_001341655.1:p.Lys646Ter
NM_001354726.2:c.1936A>T	NP_001341655.1:p.Lys646Ter
NM_001354727.1:c.2509A>T	NP_001341656.1:p.Lys837Ter
NM_001354727.2:c.2509A>T	NP_001341656.1:p.Lys837Ter
NM_001354729.1:c.2497A>T	NP_001341658.1:p.Lys833Ter
NM_001354729.2:c.2497A>T	NP_001341658.1:p.Lys833Ter
NM_001354730.1:c.2269A>T	NP_001341659.1:p.Lys757Ter
NM_001354730.2:c.2269A>T	NP_001341659.1:p.Lys757Ter
NM_004628.4:c.2515A>T , LRG_472t1:c.2515A>T	NP_004619.3:p.Lys839Ter
NR_027299.1:n.2495A>T
NR_148950.1:n.2458A>T
NR_148950.2:n.2387A>T
NR_148951.1:n.2334A>T
NR_148951.2:n.2263A>T
ENST00000285021.11:c.2515A>T	ENSP00000285021.7:p.Lys839Ter
ENST00000476581.6:c.*1968A>T	ENSP00000424548.1:n.*1968A>T
ENST00000601399.3:n.690-572T>A
ENST00000608606.1:c.599-572T>A
ENST00000626721.1:n.589-576T>A
XR_001740256.2:n.2822A>T
XR_002959580.1:n.2897A>T
XR_002959581.1:n.4165A>T