Canonical Allele Identifier: CA359826663

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60903651G>A , CM000667.2:g.60903651G>A	GRCh38
NC_000005.9:g.60199478G>A , CM000667.1:g.60199478G>A	GRCh37
NC_000005.8:g.60235235G>A	NCBI36
NG_009289.1:g.46428C>T , LRG_466:g.46428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.547C>T MANE Select	NP_000073.1:p.Gln183Ter
ENST00000676185.1:c.547C>T MANE Select	ENSP00000501614.1:p.Gln183Ter
NM_000082.3:c.547C>T , LRG_466t1:c.547C>T	NP_000073.1:p.Gln183Ter
NM_001007233.2:c.373C>T	NP_001007234.1:p.Gln125Ter
NM_001007233.3:c.373C>T	NP_001007234.1:p.Gln125Ter
NM_001007234.2:c.547C>T	NP_001007235.1:p.Gln183Ter
NM_001007234.3:c.547C>T	NP_001007235.1:p.Gln183Ter
NM_001290285.1:c.88C>T	NP_001277214.1:p.Gln30Ter
NM_001290285.2:c.88C>T	NP_001277214.1:p.Gln30Ter
ENST00000265038.10:c.547C>T	ENSP00000265038.6:p.Gln183Ter
ENST00000265038.9:c.547C>T	ENSP00000265038.5:p.Gln183Ter
ENST00000381118.7:c.*591C>T	ENSP00000370510.3:n.*591C>T
ENST00000439176.5:c.373C>T	ENSP00000408344.1:p.Gln125Ter
ENST00000439176.6:c.547C>T	ENSP00000408344.2:p.Gln183Ter
ENST00000462279.5:n.392C>T
ENST00000484330.5:n.227-1143C>T
ENST00000495985.5:n.324C>T
ENST00000497892.5:n.590C>T
ENST00000497892.6:c.*345C>T	ENSP00000501805.1:n.*345C>T
ENST00000643034.1:c.*439C>T	ENSP00000496080.1:n.*439C>T
ENST00000643708.1:c.*377C>T	ENSP00000494199.1:n.*377C>T
ENST00000647431.1:c.599C>T
ENST00000647431.2:c.648C>T	ENSP00000494726.2:n.648C>T
ENST00000647486.1:c.498C>T
ENST00000647486.2:c.547C>T	ENSP00000494466.2:p.Gln183Ter
ENST00000675042.1:c.373C>T	ENSP00000502082.1:p.Gln125Ter
ENST00000675042.2:c.373C>T	ENSP00000502082.2:p.Gln125Ter
ENST00000675229.1:c.547C>T	ENSP00000502154.1:p.Gln183Ter
ENST00000675378.1:c.547C>T	ENSP00000502535.1:p.Gln183Ter
ENST00000675452.1:n.796C>T
ENST00000675452.2:c.*512C>T	ENSP00000506954.1:n.*512C>T
ENST00000675920.1:n.1155C>T
ENST00000682217.1:c.547C>T	ENSP00000507570.1:p.Gln183Ter
ENST00000682246.1:n.603C>T
ENST00000682375.1:c.*377C>T	ENSP00000507551.1:n.*377C>T
ENST00000683052.1:c.349C>T	ENSP00000507072.1:p.Gln117Ter
ENST00000683199.1:n.569C>T
ENST00000683216.1:n.816C>T
ENST00000683460.1:c.*377C>T	ENSP00000507820.1:n.*377C>T
ENST00000684394.1:n.602C>T
ENST00000684453.1:n.597C>T
ENST00000684621.1:n.603C>T