Canonical Allele Identifier: CA359822443

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183291A>T (hg19) ; chr5:g.60887464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887464A>T , CM000667.2:g.60887464A>T	GRCh38
NC_000005.9:g.60183291A>T , CM000667.1:g.60183291A>T	GRCh37
NC_000005.8:g.60219048A>T	NCBI36
NG_009289.1:g.62615T>A , LRG_466:g.62615T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10812T>A	ENSP00000408344.2:n.855+10812T>A
ENST00000647431.2:c.1199T>A	ENSP00000494726.2:n.1199T>A
ENST00000675042.2:c.924T>A	ENSP00000502082.2:p.Tyr308Ter
ENST00000675452.2:c.*1063T>A	ENSP00000506954.1:n.*1063T>A
ENST00000682217.1:c.900T>A	ENSP00000507570.1:p.Tyr300Ter
ENST00000682375.1:c.*928T>A	ENSP00000507551.1:n.*928T>A
ENST00000683052.1:c.900T>A	ENSP00000507072.1:p.Tyr300Ter
ENST00000683216.1:n.4735T>A
ENST00000683460.1:c.*2535T>A	ENSP00000507820.1:n.*2535T>A
ENST00000683688.1:n.2844T>A
ENST00000684621.1:n.956T>A
ENST00000265038.10:c.1155T>A	ENSP00000265038.6:p.Tyr385Ter
ENST00000643034.1:c.*990T>A	ENSP00000496080.1:n.*990T>A
ENST00000643708.1:c.*928T>A	ENSP00000494199.1:n.*928T>A
ENST00000647431.1:c.1150T>A
ENST00000675378.1:c.*99T>A	ENSP00000502535.1:n.*99T>A
ENST00000675452.1:n.1347T>A
ENST00000676185.1:c.1098T>A MANE Select	ENSP00000501614.1:p.Tyr366Ter
ENST00000265038.9:c.1098T>A	ENSP00000265038.5:p.Tyr366Ter
ENST00000381118.7:c.*1142T>A	ENSP00000370510.3:n.*1142T>A
ENST00000462279.5:n.2550T>A
NM_000082.3:c.1098T>A , LRG_466t1:c.1098T>A	NP_000073.1:p.Tyr366Ter
NM_001007233.2:c.924T>A	NP_001007234.1:p.Tyr308Ter
NM_001290285.1:c.639T>A	NP_001277214.1:p.Tyr213Ter
NM_000082.4:c.1098T>A MANE Select	NP_000073.1:p.Tyr366Ter
NM_001007233.3:c.924T>A	NP_001007234.1:p.Tyr308Ter
NM_001290285.2:c.639T>A	NP_001277214.1:p.Tyr213Ter