Canonical Allele Identifier: CA351537964

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190213C>T (hg19) ; chr3:g.14148713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148713C>T , CM000665.2:g.14148713C>T	GRCh38
NC_000003.11:g.14190213C>T , CM000665.1:g.14190213C>T	GRCh37
NC_000003.10:g.14165214C>T	NCBI36
NG_011763.1:g.34960G>A , LRG_472:g.34960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2269G>A MANE Select	ENSP00000285021.8:p.Gly757Arg
ENST00000285021.11:c.2269G>A	ENSP00000285021.7:p.Gly757Arg
ENST00000427795.2:n.134G>A
ENST00000476581.6:c.*1722G>A	ENSP00000424548.1:n.*1722G>A
NM_004628.4:c.2269G>A , LRG_472t1:c.2269G>A	NP_004619.3:p.Gly757Arg
NR_027299.1:n.2249G>A
XM_011534092.1:c.2269G>A	XP_011532394.1:p.Gly757Arg
NM_001354726.1:c.1690G>A	NP_001341655.1:p.Gly564Arg
NM_001354727.1:c.2263G>A	NP_001341656.1:p.Gly755Arg
NM_001354729.1:c.2251G>A	NP_001341658.1:p.Gly751Arg
NM_001354730.1:c.2023G>A	NP_001341659.1:p.Gly675Arg
NR_148950.1:n.2212G>A
NR_148951.1:n.2088G>A
XR_001740256.2:n.2302G>A
XR_002959580.1:n.2302G>A
XR_002959581.1:n.3919G>A
NM_001354727.2:c.2263G>A	NP_001341656.1:p.Gly755Arg
NM_004628.5:c.2269G>A MANE Select	NP_004619.3:p.Gly757Arg
NR_148950.2:n.2141G>A
NR_148951.2:n.2017G>A
NM_001354726.2:c.1690G>A	NP_001341655.1:p.Gly564Arg
NM_001354729.2:c.2251G>A	NP_001341658.1:p.Gly751Arg
NM_001354730.2:c.2023G>A	NP_001341659.1:p.Gly675Arg