Canonical Allele Identifier: CA359823468

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60891027A>T , CM000667.2:g.60891027A>T	GRCh38
NC_000005.9:g.60186854A>T , CM000667.1:g.60186854A>T	GRCh37
NC_000005.8:g.60222611A>T	NCBI36
NG_009289.1:g.59052T>A , LRG_466:g.59052T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.903T>A MANE Select	NP_000073.1:p.Cys301Ter
ENST00000676185.1:c.903T>A MANE Select	ENSP00000501614.1:p.Cys301Ter
NM_000082.3:c.903T>A , LRG_466t1:c.903T>A	NP_000073.1:p.Cys301Ter
NM_001007233.2:c.729T>A	NP_001007234.1:p.Cys243Ter
NM_001007233.3:c.729T>A	NP_001007234.1:p.Cys243Ter
NM_001290285.1:c.444T>A	NP_001277214.1:p.Cys148Ter
NM_001290285.2:c.444T>A	NP_001277214.1:p.Cys148Ter
ENST00000265038.10:c.960T>A	ENSP00000265038.6:p.Cys320Ter
ENST00000265038.9:c.903T>A	ENSP00000265038.5:p.Cys301Ter
ENST00000381118.7:c.*947T>A	ENSP00000370510.3:n.*947T>A
ENST00000439176.6:c.855+7249T>A	ENSP00000408344.2:n.855+7249T>A
ENST00000462279.5:n.2355T>A
ENST00000643034.1:c.*795T>A	ENSP00000496080.1:n.*795T>A
ENST00000643708.1:c.*733T>A	ENSP00000494199.1:n.*733T>A
ENST00000647431.1:c.955T>A
ENST00000647431.2:c.1004T>A	ENSP00000494726.2:n.1004T>A
ENST00000647486.1:c.1125T>A
ENST00000647486.2:c.1174T>A	ENSP00000494466.2:n.1174T>A
ENST00000675042.2:c.729T>A	ENSP00000502082.2:p.Cys243Ter
ENST00000675378.1:c.903T>A	ENSP00000502535.1:p.Cys301Ter
ENST00000675452.1:n.1152T>A
ENST00000675452.2:c.*868T>A	ENSP00000506954.1:n.*868T>A
ENST00000682217.1:c.844-3507T>A	ENSP00000507570.1:n.844-3507T>A
ENST00000682375.1:c.*733T>A	ENSP00000507551.1:n.*733T>A
ENST00000683052.1:c.705T>A	ENSP00000507072.1:p.Cys235Ter
ENST00000683199.1:n.925T>A
ENST00000683216.1:n.1172T>A
ENST00000683460.1:c.*2340T>A	ENSP00000507820.1:n.*2340T>A
ENST00000684453.1:n.2560T>A
ENST00000684621.1:n.900-3507T>A