Canonical Allele Identifier: CA1549989098

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904794G= , CM000667.2:g.60904794G=	GRCh38
NC_000005.9:g.60200621G= , CM000667.1:g.60200621G=	GRCh37
NC_000005.8:g.60236378G=	NCBI36
NG_009289.1:g.45285C= , LRG_466:g.45285C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.479C= MANE Select	NP_000073.1:p.Ala160=
ENST00000676185.1:c.479C= MANE Select	ENSP00000501614.1:p.Ala160=
NM_000082.3:c.479C= , LRG_466t1:c.479C=	NP_000073.1:p.Ala160=
NM_001007233.2:c.305C=	NP_001007234.1:p.Ala102=
NM_001007233.3:c.305C=	NP_001007234.1:p.Ala102=
NM_001007234.2:c.479C=	NP_001007235.1:p.Ala160=
NM_001007234.3:c.479C=	NP_001007235.1:p.Ala160=
NM_001290285.1:c.23-1078C=	NP_001277214.1:n.23-1078C=
NM_001290285.2:c.23-1078C=	NP_001277214.1:n.23-1078C=
ENST00000265038.10:c.479C=	ENSP00000265038.6:p.Ala160=
ENST00000265038.9:c.479C=	ENSP00000265038.5:p.Ala160=
ENST00000381118.7:c.*523C=	ENSP00000370510.3:n.*523C=
ENST00000439176.5:c.305C=	ENSP00000408344.1:p.Ala102=
ENST00000439176.6:c.479C=	ENSP00000408344.2:p.Ala160=
ENST00000462279.5:n.324C=
ENST00000484330.5:n.227-2286C=
ENST00000495985.5:n.252C=
ENST00000497892.5:n.522C=
ENST00000497892.6:c.*277C=	ENSP00000501805.1:n.*277C=
ENST00000643034.1:c.*371C=	ENSP00000496080.1:n.*371C=
ENST00000643708.1:c.*309C=	ENSP00000494199.1:n.*309C=
ENST00000647431.1:c.531C=
ENST00000647431.2:c.580C=	ENSP00000494726.2:n.580C=
ENST00000647486.1:c.430C=
ENST00000647486.2:c.479C=	ENSP00000494466.2:p.Ala160=
ENST00000675042.1:c.305C=	ENSP00000502082.1:p.Ala102=
ENST00000675042.2:c.305C=	ENSP00000502082.2:p.Ala102=
ENST00000675229.1:c.479C=	ENSP00000502154.1:p.Ala160=
ENST00000675378.1:c.479C=	ENSP00000502535.1:p.Ala160=
ENST00000675452.1:n.728C=
ENST00000675452.2:c.*444C=	ENSP00000506954.1:n.*444C=
ENST00000675920.1:n.1087C=
ENST00000682217.1:c.479C=	ENSP00000507570.1:p.Ala160=
ENST00000682246.1:n.535C=
ENST00000682375.1:c.*309C=	ENSP00000507551.1:n.*309C=
ENST00000683052.1:c.281C=	ENSP00000507072.1:p.Ala94=
ENST00000683199.1:n.501C=
ENST00000683216.1:n.744C=
ENST00000683460.1:c.*309C=	ENSP00000507820.1:n.*309C=
ENST00000684394.1:n.534C=
ENST00000684453.1:n.529C=
ENST00000684621.1:n.535C=