Canonical Allele Identifier: CA359822413

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183288T>A (hg19) ; chr5:g.60887461T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887461T>A , CM000667.2:g.60887461T>A	GRCh38
NC_000005.9:g.60183288T>A , CM000667.1:g.60183288T>A	GRCh37
NC_000005.8:g.60219045T>A	NCBI36
NG_009289.1:g.62618A>T , LRG_466:g.62618A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10815A>T	ENSP00000408344.2:n.855+10815A>T
ENST00000647431.2:c.1202A>T	ENSP00000494726.2:n.1202A>T
ENST00000675042.2:c.927A>T	ENSP00000502082.2:p.Glu309Asp
ENST00000675452.2:c.*1066A>T	ENSP00000506954.1:n.*1066A>T
ENST00000682217.1:c.903A>T	ENSP00000507570.1:p.Glu301Asp
ENST00000682375.1:c.*931A>T	ENSP00000507551.1:n.*931A>T
ENST00000683052.1:c.903A>T	ENSP00000507072.1:p.Glu301Asp
ENST00000683216.1:n.4738A>T
ENST00000683460.1:c.*2538A>T	ENSP00000507820.1:n.*2538A>T
ENST00000683688.1:n.2847A>T
ENST00000684621.1:n.959A>T
ENST00000265038.10:c.1158A>T	ENSP00000265038.6:p.Glu386Asp
ENST00000643034.1:c.*993A>T	ENSP00000496080.1:n.*993A>T
ENST00000643708.1:c.*931A>T	ENSP00000494199.1:n.*931A>T
ENST00000647431.1:c.1153A>T
ENST00000675378.1:c.*102A>T	ENSP00000502535.1:n.*102A>T
ENST00000675452.1:n.1350A>T
ENST00000676185.1:c.1101A>T MANE Select	ENSP00000501614.1:p.Glu367Asp
ENST00000265038.9:c.1101A>T	ENSP00000265038.5:p.Glu367Asp
ENST00000381118.7:c.*1145A>T	ENSP00000370510.3:n.*1145A>T
ENST00000462279.5:n.2553A>T
NM_000082.3:c.1101A>T , LRG_466t1:c.1101A>T	NP_000073.1:p.Glu367Asp
NM_001007233.2:c.927A>T	NP_001007234.1:p.Glu309Asp
NM_001290285.1:c.642A>T	NP_001277214.1:p.Glu214Asp
NM_000082.4:c.1101A>T MANE Select	NP_000073.1:p.Glu367Asp
NM_001007233.3:c.927A>T	NP_001007234.1:p.Glu309Asp
NM_001290285.2:c.642A>T	NP_001277214.1:p.Glu214Asp