Canonical Allele Identifier: CA359825750

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60899703C>T , CM000667.2:g.60899703C>T	GRCh38
NC_000005.9:g.60195530C>T , CM000667.1:g.60195530C>T	GRCh37
NC_000005.8:g.60231287C>T	NCBI36
NG_009289.1:g.50376G>A , LRG_466:g.50376G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.642G>A MANE Select	NP_000073.1:p.Trp214Ter
ENST00000676185.1:c.642G>A MANE Select	ENSP00000501614.1:p.Trp214Ter
NM_000082.3:c.642G>A , LRG_466t1:c.642G>A	NP_000073.1:p.Trp214Ter
NM_001007233.2:c.468G>A	NP_001007234.1:p.Trp156Ter
NM_001007233.3:c.468G>A	NP_001007234.1:p.Trp156Ter
NM_001290285.1:c.183G>A	NP_001277214.1:p.Trp61Ter
NM_001290285.2:c.183G>A	NP_001277214.1:p.Trp61Ter
ENST00000265038.10:c.642G>A	ENSP00000265038.6:p.Trp214Ter
ENST00000265038.9:c.642G>A	ENSP00000265038.5:p.Trp214Ter
ENST00000381118.7:c.*686G>A	ENSP00000370510.3:n.*686G>A
ENST00000439176.6:c.654G>A	ENSP00000408344.2:p.Trp218Ter
ENST00000462279.5:n.487G>A
ENST00000484330.5:n.318G>A
ENST00000495985.5:n.419G>A
ENST00000643034.1:c.*534G>A	ENSP00000496080.1:n.*534G>A
ENST00000643708.1:c.*472G>A	ENSP00000494199.1:n.*472G>A
ENST00000647431.1:c.694G>A
ENST00000647431.2:c.743G>A	ENSP00000494726.2:n.743G>A
ENST00000647486.1:c.864G>A
ENST00000647486.2:c.913G>A	ENSP00000494466.2:n.913G>A
ENST00000675042.2:c.468G>A	ENSP00000502082.2:p.Trp156Ter
ENST00000675378.1:c.642G>A	ENSP00000502535.1:p.Trp214Ter
ENST00000675452.1:n.891G>A
ENST00000675452.2:c.*607G>A	ENSP00000506954.1:n.*607G>A
ENST00000682217.1:c.642G>A	ENSP00000507570.1:p.Trp214Ter
ENST00000682246.1:n.698G>A
ENST00000682375.1:c.*472G>A	ENSP00000507551.1:n.*472G>A
ENST00000683052.1:c.444G>A	ENSP00000507072.1:p.Trp148Ter
ENST00000683199.1:n.664G>A
ENST00000683216.1:n.911G>A
ENST00000683460.1:c.*472G>A	ENSP00000507820.1:n.*472G>A
ENST00000684394.1:n.697G>A
ENST00000684453.1:n.692G>A
ENST00000684621.1:n.698G>A