Canonical Allele Identifier: CA351541333

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14159740C>T , CM000665.2:g.14159740C>T	GRCh38
NC_000003.11:g.14201240C>T , CM000665.1:g.14201240C>T	GRCh37
NC_000003.10:g.14176244C>T	NCBI36
NG_011763.1:g.23933G>A , LRG_472:g.23933G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.990+1G>A MANE Select	NP_004619.3:n.990+1G>A
ENST00000285021.12:c.990+1G>A MANE Select	ENSP00000285021.8:n.990+1G>A
NM_001354726.1:c.411+1G>A	NP_001341655.1:n.411+1G>A
NM_001354726.2:c.411+1G>A	NP_001341655.1:n.411+1G>A
NM_001354727.1:c.990+1G>A	NP_001341656.1:n.990+1G>A
NM_001354727.2:c.990+1G>A	NP_001341656.1:n.990+1G>A
NM_001354729.1:c.972+1G>A	NP_001341658.1:n.972+1G>A
NM_001354729.2:c.972+1G>A	NP_001341658.1:n.972+1G>A
NM_001354730.1:c.990+1G>A	NP_001341659.1:n.990+1G>A
NM_001354730.2:c.990+1G>A	NP_001341659.1:n.990+1G>A
NM_004628.4:c.990+1G>A , LRG_472t1:c.990+1G>A	NP_004619.3:n.990+1G>A
NR_027299.1:n.970+1G>A
NR_148950.1:n.1094+1G>A
NR_148950.2:n.1023+1G>A
NR_148951.1:n.970+1G>A
NR_148951.2:n.899+1G>A
ENST00000285021.11:c.990+1G>A	ENSP00000285021.7:n.990+1G>A
ENST00000476581.6:c.*443+1G>A	ENSP00000424548.1:n.*443+1G>A
ENST00000477324.6:n.468+1G>A
XM_011534092.1:c.990+1G>A	XP_011532394.1:n.990+1G>A
XM_011534093.1:c.990+1G>A	XP_011532395.1:n.990+1G>A
XR_001740256.2:n.1023+1G>A
XR_002959580.1:n.1023+1G>A
XR_002959581.1:n.1023+1G>A