Canonical Allele Identifier: CA1549981529

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887466A= , CM000667.2:g.60887466A=	GRCh38
NC_000005.9:g.60183293A= , CM000667.1:g.60183293A=	GRCh37
NC_000005.8:g.60219050A=	NCBI36
NG_009289.1:g.62613T= , LRG_466:g.62613T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10810T=	ENSP00000408344.2:n.855+10810T=
ENST00000647431.2:c.1197T=	ENSP00000494726.2:n.1197T=
ENST00000675042.2:c.922T=	ENSP00000502082.2:p.Tyr308=
ENST00000675452.2:c.*1061T=	ENSP00000506954.1:n.*1061T=
ENST00000682217.1:c.898T=	ENSP00000507570.1:p.Tyr300=
ENST00000682375.1:c.*926T=	ENSP00000507551.1:n.*926T=
ENST00000683052.1:c.898T=	ENSP00000507072.1:p.Tyr300=
ENST00000683216.1:n.4733T=
ENST00000683460.1:c.*2533T=	ENSP00000507820.1:n.*2533T=
ENST00000683688.1:n.2842T=
ENST00000684621.1:n.954T=
ENST00000265038.10:c.1153T=	ENSP00000265038.6:p.Tyr385=
ENST00000643034.1:c.*988T=	ENSP00000496080.1:n.*988T=
ENST00000643708.1:c.*926T=	ENSP00000494199.1:n.*926T=
ENST00000647431.1:c.1148T=
ENST00000675378.1:c.*97T=	ENSP00000502535.1:n.*97T=
ENST00000675452.1:n.1345T=
ENST00000676185.1:c.1096T= MANE Select	ENSP00000501614.1:p.Tyr366=
ENST00000265038.9:c.1096T=	ENSP00000265038.5:p.Tyr366=
ENST00000381118.7:c.*1140T=	ENSP00000370510.3:n.*1140T=
ENST00000462279.5:n.2548T=
NM_000082.3:c.1096T= , LRG_466t1:c.1096T=	NP_000073.1:p.Tyr366=
NM_001007233.2:c.922T=	NP_001007234.1:p.Tyr308=
NM_001290285.1:c.637T=	NP_001277214.1:p.Tyr213=
NM_000082.4:c.1096T= MANE Select	NP_000073.1:p.Tyr366=
NM_001007233.3:c.922T=	NP_001007234.1:p.Tyr308=
NM_001290285.2:c.637T=	NP_001277214.1:p.Tyr213=