Canonical Allele Identifier: CA359822433

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183290C>T (hg19) ; chr5:g.60887463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887463C>T , CM000667.2:g.60887463C>T	GRCh38
NC_000005.9:g.60183290C>T , CM000667.1:g.60183290C>T	GRCh37
NC_000005.8:g.60219047C>T	NCBI36
NG_009289.1:g.62616G>A , LRG_466:g.62616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10813G>A	ENSP00000408344.2:n.855+10813G>A
ENST00000647431.2:c.1200G>A	ENSP00000494726.2:n.1200G>A
ENST00000675042.2:c.925G>A	ENSP00000502082.2:p.Glu309Lys
ENST00000675452.2:c.*1064G>A	ENSP00000506954.1:n.*1064G>A
ENST00000682217.1:c.901G>A	ENSP00000507570.1:p.Glu301Lys
ENST00000682375.1:c.*929G>A	ENSP00000507551.1:n.*929G>A
ENST00000683052.1:c.901G>A	ENSP00000507072.1:p.Glu301Lys
ENST00000683216.1:n.4736G>A
ENST00000683460.1:c.*2536G>A	ENSP00000507820.1:n.*2536G>A
ENST00000683688.1:n.2845G>A
ENST00000684621.1:n.957G>A
ENST00000265038.10:c.1156G>A	ENSP00000265038.6:p.Glu386Lys
ENST00000643034.1:c.*991G>A	ENSP00000496080.1:n.*991G>A
ENST00000643708.1:c.*929G>A	ENSP00000494199.1:n.*929G>A
ENST00000647431.1:c.1151G>A
ENST00000675378.1:c.*100G>A	ENSP00000502535.1:n.*100G>A
ENST00000675452.1:n.1348G>A
ENST00000676185.1:c.1099G>A MANE Select	ENSP00000501614.1:p.Glu367Lys
ENST00000265038.9:c.1099G>A	ENSP00000265038.5:p.Glu367Lys
ENST00000381118.7:c.*1143G>A	ENSP00000370510.3:n.*1143G>A
ENST00000462279.5:n.2551G>A
NM_000082.3:c.1099G>A , LRG_466t1:c.1099G>A	NP_000073.1:p.Glu367Lys
NM_001007233.2:c.925G>A	NP_001007234.1:p.Glu309Lys
NM_001290285.1:c.640G>A	NP_001277214.1:p.Glu214Lys
NM_000082.4:c.1099G>A MANE Select	NP_000073.1:p.Glu367Lys
NM_001007233.3:c.925G>A	NP_001007234.1:p.Glu309Lys
NM_001290285.2:c.640G>A	NP_001277214.1:p.Glu214Lys