Canonical Allele Identifier: CA1549981524
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60887457C= , CM000667.2:g.60887457C= GRCh38
NC_000005.9:g.60183284C= , CM000667.1:g.60183284C= GRCh37
NC_000005.8:g.60219041C= NCBI36
NG_009289.1:g.62622G= , LRG_466:g.62622G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000439176.6:c.855+10819G= ENSP00000408344.2:n.855+10819G=
ENST00000647431.2:c.1206G= ENSP00000494726.2:n.1206G=
ENST00000675042.2:c.931G= ENSP00000502082.2:p.Val311=
ENST00000675452.2:c.*1070G= ENSP00000506954.1:n.*1070G=
ENST00000682217.1:c.907G= ENSP00000507570.1:p.Val303=
ENST00000682375.1:c.*935G= ENSP00000507551.1:n.*935G=
ENST00000683052.1:c.907G= ENSP00000507072.1:p.Val303=
ENST00000683216.1:n.4742G=
ENST00000683460.1:c.*2542G= ENSP00000507820.1:n.*2542G=
ENST00000683688.1:n.2851G=
ENST00000684621.1:n.963G=
ENST00000265038.10:c.1162G= ENSP00000265038.6:p.Val388=
ENST00000643034.1:c.*997G= ENSP00000496080.1:n.*997G=
ENST00000643708.1:c.*935G= ENSP00000494199.1:n.*935G=
ENST00000647431.1:c.1157G=
ENST00000675378.1:c.*106G= ENSP00000502535.1:n.*106G=
ENST00000675452.1:n.1354G=
ENST00000676185.1:c.1105G= MANE Select ENSP00000501614.1:p.Val369=
ENST00000265038.9:c.1105G= ENSP00000265038.5:p.Val369=
ENST00000381118.7:c.*1149G= ENSP00000370510.3:n.*1149G=
ENST00000462279.5:n.2557G=
NM_000082.3:c.1105G= , LRG_466t1:c.1105G= NP_000073.1:p.Val369=
NM_001007233.2:c.931G= NP_001007234.1:p.Val311=
NM_001290285.1:c.646G= NP_001277214.1:p.Val216=
NM_000082.4:c.1105G= MANE Select NP_000073.1:p.Val369=
NM_001007233.3:c.931G= NP_001007234.1:p.Val311=
NM_001290285.2:c.646G= NP_001277214.1:p.Val216=