Canonical Allele Identifier: CA1549981536
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60887478C= , CM000667.2:g.60887478C= GRCh38
NC_000005.9:g.60183305C= , CM000667.1:g.60183305C= GRCh37
NC_000005.8:g.60219062C= NCBI36
NG_009289.1:g.62601G= , LRG_466:g.62601G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000439176.6:c.855+10798G= ENSP00000408344.2:n.855+10798G=
ENST00000647431.2:c.1185G= ENSP00000494726.2:n.1185G=
ENST00000675042.2:c.910G= ENSP00000502082.2:p.Val304=
ENST00000675452.2:c.*1049G= ENSP00000506954.1:n.*1049G=
ENST00000682217.1:c.886G= ENSP00000507570.1:p.Val296=
ENST00000682375.1:c.*914G= ENSP00000507551.1:n.*914G=
ENST00000683052.1:c.886G= ENSP00000507072.1:p.Val296=
ENST00000683216.1:n.4721G=
ENST00000683460.1:c.*2521G= ENSP00000507820.1:n.*2521G=
ENST00000683688.1:n.2830G=
ENST00000684621.1:n.942G=
ENST00000265038.10:c.1141G= ENSP00000265038.6:p.Val381=
ENST00000643034.1:c.*976G= ENSP00000496080.1:n.*976G=
ENST00000643708.1:c.*914G= ENSP00000494199.1:n.*914G=
ENST00000647431.1:c.1136G=
ENST00000675378.1:c.*85G= ENSP00000502535.1:n.*85G=
ENST00000675452.1:n.1333G=
ENST00000676185.1:c.1084G= MANE Select ENSP00000501614.1:p.Val362=
ENST00000265038.9:c.1084G= ENSP00000265038.5:p.Val362=
ENST00000381118.7:c.*1128G= ENSP00000370510.3:n.*1128G=
ENST00000462279.5:n.2536G=
NM_000082.3:c.1084G= , LRG_466t1:c.1084G= NP_000073.1:p.Val362=
NM_001007233.2:c.910G= NP_001007234.1:p.Val304=
NM_001290285.1:c.625G= NP_001277214.1:p.Val209=
NM_000082.4:c.1084G= MANE Select NP_000073.1:p.Val362=
NM_001007233.3:c.910G= NP_001007234.1:p.Val304=
NM_001290285.2:c.625G= NP_001277214.1:p.Val209=