Canonical Allele Identifier: CA359822676

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887521C>T , CM000667.2:g.60887521C>T	GRCh38
NC_000005.9:g.60183348C>T , CM000667.1:g.60183348C>T	GRCh37
NC_000005.8:g.60219105C>T	NCBI36
NG_009289.1:g.62558G>A , LRG_466:g.62558G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.1042-1G>A MANE Select	NP_000073.1:n.1042-1G>A
ENST00000676185.1:c.1042-1G>A MANE Select	ENSP00000501614.1:n.1042-1G>A
NM_000082.3:c.1042-1G>A , LRG_466t1:c.1042-1G>A	NP_000073.1:n.1042-1G>A
NM_001007233.2:c.868-1G>A	NP_001007234.1:n.868-1G>A
NM_001007233.3:c.868-1G>A	NP_001007234.1:n.868-1G>A
NM_001290285.1:c.583-1G>A	NP_001277214.1:n.583-1G>A
NM_001290285.2:c.583-1G>A	NP_001277214.1:n.583-1G>A
ENST00000265038.10:c.1099-1G>A	ENSP00000265038.6:n.1099-1G>A
ENST00000265038.9:c.1042-1G>A	ENSP00000265038.5:n.1042-1G>A
ENST00000381118.7:c.*1086-1G>A	ENSP00000370510.3:n.*1086-1G>A
ENST00000439176.6:c.855+10755G>A	ENSP00000408344.2:n.855+10755G>A
ENST00000462279.5:n.2494-1G>A
ENST00000643034.1:c.*934-1G>A	ENSP00000496080.1:n.*934-1G>A
ENST00000643708.1:c.*872-1G>A	ENSP00000494199.1:n.*872-1G>A
ENST00000647431.1:c.1094-1G>A
ENST00000647431.2:c.1143-1G>A	ENSP00000494726.2:n.1143-1G>A
ENST00000675042.2:c.868-1G>A	ENSP00000502082.2:n.868-1G>A
ENST00000675378.1:c.*43-1G>A	ENSP00000502535.1:n.*43-1G>A
ENST00000675452.1:n.1291-1G>A
ENST00000675452.2:c.*1007-1G>A	ENSP00000506954.1:n.*1007-1G>A
ENST00000682217.1:c.844-1G>A	ENSP00000507570.1:n.844-1G>A
ENST00000682375.1:c.*872-1G>A	ENSP00000507551.1:n.*872-1G>A
ENST00000683052.1:c.844-1G>A	ENSP00000507072.1:n.844-1G>A
ENST00000683216.1:n.4678G>A
ENST00000683460.1:c.*2479-1G>A	ENSP00000507820.1:n.*2479-1G>A
ENST00000683688.1:n.2787G>A
ENST00000684621.1:n.900-1G>A