Canonical Allele Identifier: CA351537240

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14147299G>T , CM000665.2:g.14147299G>T	GRCh38
NC_000003.11:g.14188799G>T , CM000665.1:g.14188799G>T	GRCh37
NC_000003.10:g.14163800G>T	NCBI36
NG_011763.1:g.36374C>A , LRG_472:g.36374C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2595C>A MANE Select	NP_004619.3:p.Tyr865Ter
ENST00000285021.12:c.2595C>A MANE Select	ENSP00000285021.8:p.Tyr865Ter
NM_001354726.1:c.2016C>A	NP_001341655.1:p.Tyr672Ter
NM_001354726.2:c.2016C>A	NP_001341655.1:p.Tyr672Ter
NM_001354727.1:c.2589C>A	NP_001341656.1:p.Tyr863Ter
NM_001354727.2:c.2589C>A	NP_001341656.1:p.Tyr863Ter
NM_001354729.1:c.2577C>A	NP_001341658.1:p.Tyr859Ter
NM_001354729.2:c.2577C>A	NP_001341658.1:p.Tyr859Ter
NM_001354730.1:c.2349C>A	NP_001341659.1:p.Tyr783Ter
NM_001354730.2:c.2349C>A	NP_001341659.1:p.Tyr783Ter
NM_004628.4:c.2595C>A , LRG_472t1:c.2595C>A	NP_004619.3:p.Tyr865Ter
NR_027299.1:n.2575C>A
NR_148950.1:n.2538C>A
NR_148950.2:n.2467C>A
NR_148951.1:n.2414C>A
NR_148951.2:n.2343C>A
ENST00000285021.11:c.2595C>A	ENSP00000285021.7:p.Tyr865Ter
ENST00000476581.6:c.*2048C>A	ENSP00000424548.1:n.*2048C>A
ENST00000601399.3:n.690-652G>T
ENST00000608606.1:c.599-652G>T
ENST00000626721.1:n.589-656G>T
XR_001740256.2:n.2902C>A
XR_002959580.1:n.2977C>A
XR_002959581.1:n.4245C>A