Canonical Allele Identifier: CA351537729

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190101A>T (hg19) ; chr3:g.14148601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148601A>T , CM000665.2:g.14148601A>T	GRCh38
NC_000003.11:g.14190101A>T , CM000665.1:g.14190101A>T	GRCh37
NC_000003.10:g.14165102A>T	NCBI36
NG_011763.1:g.35072T>A , LRG_472:g.35072T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2381T>A MANE Select	ENSP00000285021.8:p.Ile794Asn
ENST00000285021.11:c.2381T>A	ENSP00000285021.7:p.Ile794Asn
ENST00000427795.2:n.246T>A
ENST00000476581.6:c.*1834T>A	ENSP00000424548.1:n.*1834T>A
NM_004628.4:c.2381T>A , LRG_472t1:c.2381T>A	NP_004619.3:p.Ile794Asn
NR_027299.1:n.2361T>A
XM_011534092.1:c.2381T>A	XP_011532394.1:p.Ile794Asn
NM_001354726.1:c.1802T>A	NP_001341655.1:p.Ile601Asn
NM_001354727.1:c.2375T>A	NP_001341656.1:p.Ile792Asn
NM_001354729.1:c.2363T>A	NP_001341658.1:p.Ile788Asn
NM_001354730.1:c.2135T>A	NP_001341659.1:p.Ile712Asn
NR_148950.1:n.2324T>A
NR_148951.1:n.2200T>A
XR_001740256.2:n.2414T>A
XR_002959580.1:n.2414T>A
XR_002959581.1:n.4031T>A
NM_001354727.2:c.2375T>A	NP_001341656.1:p.Ile792Asn
NM_004628.5:c.2381T>A MANE Select	NP_004619.3:p.Ile794Asn
NR_148950.2:n.2253T>A
NR_148951.2:n.2129T>A
NM_001354726.2:c.1802T>A	NP_001341655.1:p.Ile601Asn
NM_001354729.2:c.2363T>A	NP_001341658.1:p.Ile788Asn
NM_001354730.2:c.2135T>A	NP_001341659.1:p.Ile712Asn