Canonical Allele Identifier: CA351537781

Gene: XPC

Linked Data

• dbSNP Id: rs1409634099
• gnomAD v4: 3-14148625-A-T
• MyVariant Identifiers: chr3:g.14190125A>T (hg19) ; chr3:g.14148625A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148625A>T , CM000665.2:g.14148625A>T	GRCh38
NC_000003.11:g.14190125A>T , CM000665.1:g.14190125A>T	GRCh37
NC_000003.10:g.14165126A>T	NCBI36
NG_011763.1:g.35048T>A , LRG_472:g.35048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2357T>A MANE Select	ENSP00000285021.8:p.Leu786Gln
ENST00000285021.11:c.2357T>A	ENSP00000285021.7:p.Leu786Gln
ENST00000427795.2:n.222T>A
ENST00000476581.6:c.*1810T>A	ENSP00000424548.1:n.*1810T>A
NM_004628.4:c.2357T>A , LRG_472t1:c.2357T>A	NP_004619.3:p.Leu786Gln
NR_027299.1:n.2337T>A
XM_011534092.1:c.2357T>A	XP_011532394.1:p.Leu786Gln
NM_001354726.1:c.1778T>A	NP_001341655.1:p.Leu593Gln
NM_001354727.1:c.2351T>A	NP_001341656.1:p.Leu784Gln
NM_001354729.1:c.2339T>A	NP_001341658.1:p.Leu780Gln
NM_001354730.1:c.2111T>A	NP_001341659.1:p.Leu704Gln
NR_148950.1:n.2300T>A
NR_148951.1:n.2176T>A
XR_001740256.2:n.2390T>A
XR_002959580.1:n.2390T>A
XR_002959581.1:n.4007T>A
NM_001354727.2:c.2351T>A	NP_001341656.1:p.Leu784Gln
NM_004628.5:c.2357T>A MANE Select	NP_004619.3:p.Leu786Gln
NR_148950.2:n.2229T>A
NR_148951.2:n.2105T>A
NM_001354726.2:c.1778T>A	NP_001341655.1:p.Leu593Gln
NM_001354729.2:c.2339T>A	NP_001341658.1:p.Leu780Gln
NM_001354730.2:c.2111T>A	NP_001341659.1:p.Leu704Gln