Canonical Allele Identifier: CA351538928

Gene: XPC

Linked Data

• gnomAD v4: 3-14158041-A-T
• MyVariant Identifiers: chr3:g.14199541A>T (hg19) ; chr3:g.14158041A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158041A>T , CM000665.2:g.14158041A>T	GRCh38
NC_000003.11:g.14199541A>T , CM000665.1:g.14199541A>T	GRCh37
NC_000003.10:g.14174543A>T	NCBI36
NG_011763.1:g.25632T>A , LRG_472:g.25632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1842T>A MANE Select	ENSP00000285021.8:p.Phe614Leu
ENST00000285021.11:c.1842T>A	ENSP00000285021.7:p.Phe614Leu
ENST00000476581.6:c.*1295T>A	ENSP00000424548.1:n.*1295T>A
NM_004628.4:c.1842T>A , LRG_472t1:c.1842T>A	NP_004619.3:p.Phe614Leu
NR_027299.1:n.1822T>A
XM_011534092.1:c.1842T>A	XP_011532394.1:p.Phe614Leu
XM_011534093.1:c.1842T>A	XP_011532395.1:p.Phe614Leu
NM_001354726.1:c.1263T>A	NP_001341655.1:p.Phe421Leu
NM_001354727.1:c.1842T>A	NP_001341656.1:p.Phe614Leu
NM_001354729.1:c.1824T>A	NP_001341658.1:p.Phe608Leu
NM_001354730.1:c.1626+216T>A	NP_001341659.1:n.1626+216T>A
NR_148950.1:n.1946T>A
NR_148951.1:n.1822T>A
XR_001740256.2:n.1875T>A
XR_002959580.1:n.1875T>A
XR_002959581.1:n.1875T>A
NM_001354727.2:c.1842T>A	NP_001341656.1:p.Phe614Leu
NM_004628.5:c.1842T>A MANE Select	NP_004619.3:p.Phe614Leu
NR_148950.2:n.1875T>A
NR_148951.2:n.1751T>A
NM_001354726.2:c.1263T>A	NP_001341655.1:p.Phe421Leu
NM_001354729.2:c.1824T>A	NP_001341658.1:p.Phe608Leu
NM_001354730.2:c.1626+216T>A	NP_001341659.1:n.1626+216T>A