Canonical Allele Identifier: CA2267603

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14165417G>A , CM000665.2:g.14165417G>A	GRCh38
NC_000003.11:g.14206917G>A , CM000665.1:g.14206917G>A	GRCh37
NC_000003.10:g.14181921G>A	NCBI36
NG_011763.1:g.18256C>T , LRG_472:g.18256C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.779+11C>T MANE Select	NP_004619.3:n.779+11C>T
ENST00000285021.12:c.779+11C>T MANE Select	ENSP00000285021.8:n.779+11C>T
NM_001354726.1:c.200+11C>T	NP_001341655.1:n.200+11C>T
NM_001354726.2:c.200+11C>T	NP_001341655.1:n.200+11C>T
NM_001354727.1:c.779+11C>T	NP_001341656.1:n.779+11C>T
NM_001354727.2:c.779+11C>T	NP_001341656.1:n.779+11C>T
NM_001354729.1:c.761+11C>T	NP_001341658.1:n.761+11C>T
NM_001354729.2:c.761+11C>T	NP_001341658.1:n.761+11C>T
NM_001354730.1:c.779+11C>T	NP_001341659.1:n.779+11C>T
NM_001354730.2:c.779+11C>T	NP_001341659.1:n.779+11C>T
NM_004628.4:c.779+11C>T , LRG_472t1:c.779+11C>T	NP_004619.3:n.779+11C>T
NR_027299.1:n.759+11C>T
NR_148950.1:n.883+11C>T
NR_148950.2:n.812+11C>T
NR_148951.1:n.759+11C>T
NR_148951.2:n.688+11C>T
ENST00000285021.11:c.779+11C>T	ENSP00000285021.7:n.779+11C>T
ENST00000452172.1:n.544+11C>T
ENST00000455144.6:n.390+11C>T
ENST00000476581.6:c.*232+11C>T	ENSP00000424548.1:n.*232+11C>T
ENST00000477324.6:n.257+11C>T
XM_011534092.1:c.779+11C>T	XP_011532394.1:n.779+11C>T
XM_011534093.1:c.779+11C>T	XP_011532395.1:n.779+11C>T
XR_001740256.2:n.812+11C>T
XR_002959580.1:n.812+11C>T
XR_002959581.1:n.812+11C>T