Canonical Allele Identifier: CA2267115

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14147899T>C , CM000665.2:g.14147899T>C	GRCh38
NC_000003.11:g.14189399T>C , CM000665.1:g.14189399T>C	GRCh37
NC_000003.10:g.14164400T>C	NCBI36
NG_011763.1:g.35774A>G , LRG_472:g.35774A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2514+9A>G MANE Select	NP_004619.3:n.2514+9A>G
ENST00000285021.12:c.2514+9A>G MANE Select	ENSP00000285021.8:n.2514+9A>G
NM_001354726.1:c.1935+9A>G	NP_001341655.1:n.1935+9A>G
NM_001354726.2:c.1935+9A>G	NP_001341655.1:n.1935+9A>G
NM_001354727.1:c.2508+9A>G	NP_001341656.1:n.2508+9A>G
NM_001354727.2:c.2508+9A>G	NP_001341656.1:n.2508+9A>G
NM_001354729.1:c.2496+9A>G	NP_001341658.1:n.2496+9A>G
NM_001354729.2:c.2496+9A>G	NP_001341658.1:n.2496+9A>G
NM_001354730.1:c.2268+9A>G	NP_001341659.1:n.2268+9A>G
NM_001354730.2:c.2268+9A>G	NP_001341659.1:n.2268+9A>G
NM_004628.4:c.2514+9A>G , LRG_472t1:c.2514+9A>G	NP_004619.3:n.2514+9A>G
NR_027299.1:n.2494+9A>G
NR_148950.1:n.2457+9A>G
NR_148950.2:n.2386+9A>G
NR_148951.1:n.2333+9A>G
NR_148951.2:n.2262+9A>G
ENST00000285021.11:c.2514+9A>G	ENSP00000285021.7:n.2514+9A>G
ENST00000427795.2:n.388A>G
ENST00000476581.6:c.*1967+9A>G	ENSP00000424548.1:n.*1967+9A>G
ENST00000601399.3:n.690-52T>C
ENST00000608606.1:c.599-52T>C
ENST00000626721.1:n.589-56T>C
XM_011534092.1:c.2514+9A>G	XP_011532394.1:n.2514+9A>G
XR_001740256.2:n.2547+9A>G
XR_002959580.1:n.2556A>G
XR_002959581.1:n.4164+9A>G