Canonical Allele Identifier: CA351537764

Gene: XPC

Linked Data

• gnomAD v4: 3-14148617-C-A
• COSMIC: COSM3427161
• MyVariant Identifiers: chr3:g.14190117C>A (hg19) ; chr3:g.14148617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148617C>A , CM000665.2:g.14148617C>A	GRCh38
NC_000003.11:g.14190117C>A , CM000665.1:g.14190117C>A	GRCh37
NC_000003.10:g.14165118C>A	NCBI36
NG_011763.1:g.35056G>T , LRG_472:g.35056G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2365G>T MANE Select	ENSP00000285021.8:p.Asp789Tyr
ENST00000285021.11:c.2365G>T	ENSP00000285021.7:p.Asp789Tyr
ENST00000427795.2:n.230G>T
ENST00000476581.6:c.*1818G>T	ENSP00000424548.1:n.*1818G>T
NM_004628.4:c.2365G>T , LRG_472t1:c.2365G>T	NP_004619.3:p.Asp789Tyr
NR_027299.1:n.2345G>T
XM_011534092.1:c.2365G>T	XP_011532394.1:p.Asp789Tyr
NM_001354726.1:c.1786G>T	NP_001341655.1:p.Asp596Tyr
NM_001354727.1:c.2359G>T	NP_001341656.1:p.Asp787Tyr
NM_001354729.1:c.2347G>T	NP_001341658.1:p.Asp783Tyr
NM_001354730.1:c.2119G>T	NP_001341659.1:p.Asp707Tyr
NR_148950.1:n.2308G>T
NR_148951.1:n.2184G>T
XR_001740256.2:n.2398G>T
XR_002959580.1:n.2398G>T
XR_002959581.1:n.4015G>T
NM_001354727.2:c.2359G>T	NP_001341656.1:p.Asp787Tyr
NM_004628.5:c.2365G>T MANE Select	NP_004619.3:p.Asp789Tyr
NR_148950.2:n.2237G>T
NR_148951.2:n.2113G>T
NM_001354726.2:c.1786G>T	NP_001341655.1:p.Asp596Tyr
NM_001354729.2:c.2347G>T	NP_001341658.1:p.Asp783Tyr
NM_001354730.2:c.2119G>T	NP_001341659.1:p.Asp707Tyr