Canonical Allele Identifier: CA2267740

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14170512T>C , CM000665.2:g.14170512T>C	GRCh38
NC_000003.11:g.14212012T>C , CM000665.1:g.14212012T>C	GRCh37
NC_000003.10:g.14187016T>C	NCBI36
NG_011763.1:g.13161A>G , LRG_472:g.13161A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.338A>G MANE Select	NP_004619.3:p.Lys113Arg
ENST00000285021.12:c.338A>G MANE Select	ENSP00000285021.8:p.Lys113Arg
NM_001354726.1:c.-118A>G	NP_001341655.1:n.-118A>G
NM_001354726.2:c.-118A>G	NP_001341655.1:n.-118A>G
NM_001354727.1:c.338A>G	NP_001341656.1:p.Lys113Arg
NM_001354727.2:c.338A>G	NP_001341656.1:p.Lys113Arg
NM_001354729.1:c.320A>G	NP_001341658.1:p.Lys107Arg
NM_001354729.2:c.320A>G	NP_001341658.1:p.Lys107Arg
NM_001354730.1:c.338A>G	NP_001341659.1:p.Lys113Arg
NM_001354730.2:c.338A>G	NP_001341659.1:p.Lys113Arg
NM_004628.4:c.338A>G , LRG_472t1:c.338A>G	NP_004619.3:p.Lys113Arg
NR_027299.1:n.442A>G
NR_148950.1:n.442A>G
NR_148950.2:n.371A>G
NR_148951.1:n.442A>G
NR_148951.2:n.371A>G
ENST00000285021.11:c.338A>G	ENSP00000285021.7:p.Lys113Arg
ENST00000452172.1:n.103A>G
ENST00000476581.6:c.338A>G	ENSP00000424548.1:p.Lys113Arg
ENST00000511155.1:c.320A>G	ENSP00000423867.1:p.Lys107Arg
XM_011534092.1:c.338A>G	XP_011532394.1:p.Lys113Arg
XM_011534093.1:c.338A>G	XP_011532395.1:p.Lys113Arg
XR_001740256.2:n.371A>G
XR_002959580.1:n.371A>G
XR_002959581.1:n.371A>G