Canonical Allele Identifier: CA1549982980

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60890914C= , CM000667.2:g.60890914C=	GRCh38
NC_000005.9:g.60186741C= , CM000667.1:g.60186741C=	GRCh37
NC_000005.8:g.60222498C=	NCBI36
NG_009289.1:g.59165G= , LRG_466:g.59165G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.1016G= MANE Select	NP_000073.1:p.Cys339=
ENST00000676185.1:c.1016G= MANE Select	ENSP00000501614.1:p.Cys339=
NM_000082.3:c.1016G= , LRG_466t1:c.1016G=	NP_000073.1:p.Cys339=
NM_001007233.2:c.842G=	NP_001007234.1:p.Cys281=
NM_001007233.3:c.842G=	NP_001007234.1:p.Cys281=
NM_001290285.1:c.557G=	NP_001277214.1:p.Cys186=
NM_001290285.2:c.557G=	NP_001277214.1:p.Cys186=
ENST00000265038.10:c.1073G=	ENSP00000265038.6:p.Cys358=
ENST00000265038.9:c.1016G=	ENSP00000265038.5:p.Cys339=
ENST00000381118.7:c.*1060G=	ENSP00000370510.3:n.*1060G=
ENST00000439176.6:c.855+7362G=	ENSP00000408344.2:n.855+7362G=
ENST00000462279.5:n.2468G=
ENST00000643034.1:c.*908G=	ENSP00000496080.1:n.*908G=
ENST00000643708.1:c.*846G=	ENSP00000494199.1:n.*846G=
ENST00000647431.1:c.1068G=
ENST00000647431.2:c.1117G=	ENSP00000494726.2:n.1117G=
ENST00000647486.1:c.1238G=
ENST00000647486.2:c.1287G=	ENSP00000494466.2:n.1287G=
ENST00000675042.2:c.842G=	ENSP00000502082.2:p.Cys281=
ENST00000675378.1:c.1016G=	ENSP00000502535.1:p.Cys339=
ENST00000675452.1:n.1265G=
ENST00000675452.2:c.*981G=	ENSP00000506954.1:n.*981G=
ENST00000682217.1:c.844-3394G=	ENSP00000507570.1:n.844-3394G=
ENST00000682375.1:c.*846G=	ENSP00000507551.1:n.*846G=
ENST00000683052.1:c.818G=	ENSP00000507072.1:p.Cys273=
ENST00000683199.1:n.1038G=
ENST00000683216.1:n.1285G=
ENST00000683460.1:c.*2453G=	ENSP00000507820.1:n.*2453G=
ENST00000684453.1:n.2673G=
ENST00000684621.1:n.900-3394G=