Canonical Allele Identifier: CA3277709

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60898317G>A , CM000667.2:g.60898317G>A	GRCh38
NC_000005.9:g.60194144G>A , CM000667.1:g.60194144G>A	GRCh37
NC_000005.8:g.60229901G>A	NCBI36
NG_009289.1:g.51762C>T , LRG_466:g.51762C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.802C>T MANE Select	NP_000073.1:p.Arg268Ter
ENST00000676185.1:c.802C>T MANE Select	ENSP00000501614.1:p.Arg268Ter
NM_000082.3:c.802C>T , LRG_466t1:c.802C>T	NP_000073.1:p.Arg268Ter
NM_001007233.2:c.628C>T	NP_001007234.1:p.Arg210Ter
NM_001007233.3:c.628C>T	NP_001007234.1:p.Arg210Ter
NM_001290285.1:c.343C>T	NP_001277214.1:p.Arg115Ter
NM_001290285.2:c.343C>T	NP_001277214.1:p.Arg115Ter
ENST00000265038.10:c.802C>T	ENSP00000265038.6:p.Arg268Ter
ENST00000265038.9:c.802C>T	ENSP00000265038.5:p.Arg268Ter
ENST00000381118.7:c.*846C>T	ENSP00000370510.3:n.*846C>T
ENST00000439176.6:c.814C>T	ENSP00000408344.2:p.Arg272Ter
ENST00000462279.5:n.647C>T
ENST00000495985.5:n.579C>T
ENST00000643034.1:c.*694C>T	ENSP00000496080.1:n.*694C>T
ENST00000643708.1:c.*632C>T	ENSP00000494199.1:n.*632C>T
ENST00000647431.1:c.854C>T
ENST00000647431.2:c.903C>T	ENSP00000494726.2:n.903C>T
ENST00000647486.1:c.1024C>T
ENST00000647486.2:c.1073C>T	ENSP00000494466.2:n.1073C>T
ENST00000675042.2:c.628C>T	ENSP00000502082.2:p.Arg210Ter
ENST00000675378.1:c.802C>T	ENSP00000502535.1:p.Arg268Ter
ENST00000675452.1:n.1051C>T
ENST00000675452.2:c.*767C>T	ENSP00000506954.1:n.*767C>T
ENST00000682217.1:c.802C>T	ENSP00000507570.1:p.Arg268Ter
ENST00000682246.1:n.858C>T
ENST00000682375.1:c.*632C>T	ENSP00000507551.1:n.*632C>T
ENST00000683052.1:c.604C>T	ENSP00000507072.1:p.Arg202Ter
ENST00000683199.1:n.824C>T
ENST00000683216.1:n.1071C>T
ENST00000683460.1:c.*632C>T	ENSP00000507820.1:n.*632C>T
ENST00000684394.1:n.857C>T
ENST00000684453.1:n.852C>T
ENST00000684621.1:n.858C>T