Canonical Allele Identifier: CA351537812

Gene: XPC

Linked Data

• gnomAD v4: 3-14148643-T-C
• MyVariant Identifiers: chr3:g.14190143T>C (hg19) ; chr3:g.14148643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148643T>C , CM000665.2:g.14148643T>C	GRCh38
NC_000003.11:g.14190143T>C , CM000665.1:g.14190143T>C	GRCh37
NC_000003.10:g.14165144T>C	NCBI36
NG_011763.1:g.35030A>G , LRG_472:g.35030A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.2339A>G MANE Select	ENSP00000285021.8:p.His780Arg
ENST00000285021.11:c.2339A>G	ENSP00000285021.7:p.His780Arg
ENST00000427795.2:n.204A>G
ENST00000476581.6:c.*1792A>G	ENSP00000424548.1:n.*1792A>G
NM_004628.4:c.2339A>G , LRG_472t1:c.2339A>G	NP_004619.3:p.His780Arg
NR_027299.1:n.2319A>G
XM_011534092.1:c.2339A>G	XP_011532394.1:p.His780Arg
NM_001354726.1:c.1760A>G	NP_001341655.1:p.His587Arg
NM_001354727.1:c.2333A>G	NP_001341656.1:p.His778Arg
NM_001354729.1:c.2321A>G	NP_001341658.1:p.His774Arg
NM_001354730.1:c.2093A>G	NP_001341659.1:p.His698Arg
NR_148950.1:n.2282A>G
NR_148951.1:n.2158A>G
XR_001740256.2:n.2372A>G
XR_002959580.1:n.2372A>G
XR_002959581.1:n.3989A>G
NM_001354727.2:c.2333A>G	NP_001341656.1:p.His778Arg
NM_004628.5:c.2339A>G MANE Select	NP_004619.3:p.His780Arg
NR_148950.2:n.2211A>G
NR_148951.2:n.2087A>G
NM_001354726.2:c.1760A>G	NP_001341655.1:p.His587Arg
NM_001354729.2:c.2321A>G	NP_001341658.1:p.His774Arg
NM_001354730.2:c.2093A>G	NP_001341659.1:p.His698Arg