Canonical Allele Identifier: CA1346991687

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14173024G= , CM000665.2:g.14173024G=	GRCh38
NC_000003.11:g.14214524G= , CM000665.1:g.14214524G=	GRCh37
NC_000003.10:g.14189528G=	NCBI36
NG_011763.1:g.10649C= , LRG_472:g.10649C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.142C= MANE Select	NP_004619.3:p.Leu48=
ENST00000285021.12:c.142C= MANE Select	ENSP00000285021.8:p.Leu48=
NM_001354726.1:c.-314C=	NP_001341655.1:n.-314C=
NM_001354726.2:c.-314C=	NP_001341655.1:n.-314C=
NM_001354727.1:c.142C=	NP_001341656.1:p.Leu48=
NM_001354727.2:c.142C=	NP_001341656.1:p.Leu48=
NM_001354729.1:c.124C=	NP_001341658.1:p.Leu42=
NM_001354729.2:c.124C=	NP_001341658.1:p.Leu42=
NM_001354730.1:c.142C=	NP_001341659.1:p.Leu48=
NM_001354730.2:c.142C=	NP_001341659.1:p.Leu48=
NM_004628.4:c.142C= , LRG_472t1:c.142C=	NP_004619.3:p.Leu48=
NR_027299.1:n.246C=
NR_148950.1:n.246C=
NR_148950.2:n.175C=
NR_148951.1:n.246C=
NR_148951.2:n.175C=
ENST00000285021.11:c.142C=	ENSP00000285021.7:p.Leu48=
ENST00000476581.6:c.142C=	ENSP00000424548.1:p.Leu48=
ENST00000511155.1:c.124C=	ENSP00000423867.1:p.Leu42=
XM_011534092.1:c.142C=	XP_011532394.1:p.Leu48=
XM_011534093.1:c.142C=	XP_011532395.1:p.Leu48=
XR_001740256.2:n.175C=
XR_002959580.1:n.175C=
XR_002959581.1:n.175C=