Canonical Allele Identifier: CA351539968

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14199764T>A (hg19) ; chr3:g.14158264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158264T>A , CM000665.2:g.14158264T>A	GRCh38
NC_000003.11:g.14199764T>A , CM000665.1:g.14199764T>A	GRCh37
NC_000003.10:g.14174766T>A	NCBI36
NG_011763.1:g.25409A>T , LRG_472:g.25409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1619A>T MANE Select	ENSP00000285021.8:p.Glu540Val
ENST00000285021.11:c.1619A>T	ENSP00000285021.7:p.Glu540Val
ENST00000476581.6:c.*1072A>T	ENSP00000424548.1:n.*1072A>T
NM_004628.4:c.1619A>T , LRG_472t1:c.1619A>T	NP_004619.3:p.Glu540Val
NR_027299.1:n.1599A>T
XM_011534092.1:c.1619A>T	XP_011532394.1:p.Glu540Val
XM_011534093.1:c.1619A>T	XP_011532395.1:p.Glu540Val
NM_001354726.1:c.1040A>T	NP_001341655.1:p.Glu347Val
NM_001354727.1:c.1619A>T	NP_001341656.1:p.Glu540Val
NM_001354729.1:c.1601A>T	NP_001341658.1:p.Glu534Val
NM_001354730.1:c.1619A>T	NP_001341659.1:p.Glu540Val
NR_148950.1:n.1723A>T
NR_148951.1:n.1599A>T
XR_001740256.2:n.1652A>T
XR_002959580.1:n.1652A>T
XR_002959581.1:n.1652A>T
NM_001354727.2:c.1619A>T	NP_001341656.1:p.Glu540Val
NM_004628.5:c.1619A>T MANE Select	NP_004619.3:p.Glu540Val
NR_148950.2:n.1652A>T
NR_148951.2:n.1528A>T
NM_001354726.2:c.1040A>T	NP_001341655.1:p.Glu347Val
NM_001354729.2:c.1601A>T	NP_001341658.1:p.Glu534Val
NM_001354730.2:c.1619A>T	NP_001341659.1:p.Glu540Val