Canonical Allele Identifier: CA2267822

Gene: XPC LSM3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14178467C>T , CM000665.2:g.14178467C>T	GRCh38
NC_000003.11:g.14219967C>T , CM000665.1:g.14219967C>T	GRCh37
NC_000003.10:g.14194971C>T	NCBI36
NG_011763.1:g.5206G>A , LRG_472:g.5206G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.102G>A (XPC) MANE Select	NP_004619.3:p.Glu34=
ENST00000285021.12:c.102G>A (XPC) MANE Select	ENSP00000285021.8:p.Glu34=
NM_001354726.1:c.-354G>A (XPC)	NP_001341655.1:n.-354G>A
NM_001354726.2:c.-354G>A (XPC)	NP_001341655.1:n.-354G>A
NM_001354727.1:c.102G>A (XPC)	NP_001341656.1:p.Glu34=
NM_001354727.2:c.102G>A (XPC)	NP_001341656.1:p.Glu34=
NM_001354729.1:c.85+17G>A (XPC)	NP_001341658.1:n.85+17G>A
NM_001354729.2:c.85+17G>A (XPC)	NP_001341658.1:n.85+17G>A
NM_001354730.1:c.102G>A (XPC)	NP_001341659.1:p.Glu34=
NM_001354730.2:c.102G>A (XPC)	NP_001341659.1:p.Glu34=
NM_004628.4:c.102G>A , LRG_472t1:c.102G>A (XPC)	NP_004619.3:p.Glu34=
NR_027299.1:n.206G>A (XPC)
NR_148950.1:n.206G>A (XPC)
NR_148950.2:n.135G>A (XPC)
NR_148951.1:n.206G>A (XPC)
NR_148951.2:n.135G>A (XPC)
ENST00000285021.11:c.102G>A (XPC)	ENSP00000285021.7:p.Glu34=
ENST00000306024.3:c.-394C>T (LSM3)	ENSP00000302160.3:n.-394C>T
ENST00000476581.6:c.102G>A (XPC)	ENSP00000424548.1:p.Glu34=
ENST00000511155.1:c.85+17G>A (XPC)	ENSP00000423867.1:n.85+17G>A
XM_011534092.1:c.102G>A (XPC)	XP_011532394.1:p.Glu34=
XM_011534093.1:c.102G>A (XPC)	XP_011532395.1:p.Glu34=
XR_001740256.2:n.135G>A (XPC)
XR_002959580.1:n.135G>A (XPC)
XR_002959581.1:n.135G>A (XPC)