Canonical Allele Identifier: CA351537344

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14147350C>T , CM000665.2:g.14147350C>T	GRCh38
NC_000003.11:g.14188850C>T , CM000665.1:g.14188850C>T	GRCh37
NC_000003.10:g.14163851C>T	NCBI36
NG_011763.1:g.36323G>A , LRG_472:g.36323G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2544G>A MANE Select	NP_004619.3:p.Trp848Ter
ENST00000285021.12:c.2544G>A MANE Select	ENSP00000285021.8:p.Trp848Ter
NM_001354726.1:c.1965G>A	NP_001341655.1:p.Trp655Ter
NM_001354726.2:c.1965G>A	NP_001341655.1:p.Trp655Ter
NM_001354727.1:c.2538G>A	NP_001341656.1:p.Trp846Ter
NM_001354727.2:c.2538G>A	NP_001341656.1:p.Trp846Ter
NM_001354729.1:c.2526G>A	NP_001341658.1:p.Trp842Ter
NM_001354729.2:c.2526G>A	NP_001341658.1:p.Trp842Ter
NM_001354730.1:c.2298G>A	NP_001341659.1:p.Trp766Ter
NM_001354730.2:c.2298G>A	NP_001341659.1:p.Trp766Ter
NM_004628.4:c.2544G>A , LRG_472t1:c.2544G>A	NP_004619.3:p.Trp848Ter
NR_027299.1:n.2524G>A
NR_148950.1:n.2487G>A
NR_148950.2:n.2416G>A
NR_148951.1:n.2363G>A
NR_148951.2:n.2292G>A
ENST00000285021.11:c.2544G>A	ENSP00000285021.7:p.Trp848Ter
ENST00000476581.6:c.*1997G>A	ENSP00000424548.1:n.*1997G>A
ENST00000601399.3:n.690-601C>T
ENST00000608606.1:c.599-601C>T
ENST00000626721.1:n.589-605C>T
XR_001740256.2:n.2851G>A
XR_002959580.1:n.2926G>A
XR_002959581.1:n.4194G>A