Canonical Allele Identifier: CA359823157

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60890954G>A , CM000667.2:g.60890954G>A	GRCh38
NC_000005.9:g.60186781G>A , CM000667.1:g.60186781G>A	GRCh37
NC_000005.8:g.60222538G>A	NCBI36
NG_009289.1:g.59125C>T , LRG_466:g.59125C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.976C>T MANE Select	NP_000073.1:p.Gln326Ter
ENST00000676185.1:c.976C>T MANE Select	ENSP00000501614.1:p.Gln326Ter
NM_000082.3:c.976C>T , LRG_466t1:c.976C>T	NP_000073.1:p.Gln326Ter
NM_001007233.2:c.802C>T	NP_001007234.1:p.Gln268Ter
NM_001007233.3:c.802C>T	NP_001007234.1:p.Gln268Ter
NM_001290285.1:c.517C>T	NP_001277214.1:p.Gln173Ter
NM_001290285.2:c.517C>T	NP_001277214.1:p.Gln173Ter
ENST00000265038.10:c.1033C>T	ENSP00000265038.6:p.Gln345Ter
ENST00000265038.9:c.976C>T	ENSP00000265038.5:p.Gln326Ter
ENST00000381118.7:c.*1020C>T	ENSP00000370510.3:n.*1020C>T
ENST00000439176.6:c.855+7322C>T	ENSP00000408344.2:n.855+7322C>T
ENST00000462279.5:n.2428C>T
ENST00000643034.1:c.*868C>T	ENSP00000496080.1:n.*868C>T
ENST00000643708.1:c.*806C>T	ENSP00000494199.1:n.*806C>T
ENST00000647431.1:c.1028C>T
ENST00000647431.2:c.1077C>T	ENSP00000494726.2:n.1077C>T
ENST00000647486.1:c.1198C>T
ENST00000647486.2:c.1247C>T	ENSP00000494466.2:n.1247C>T
ENST00000675042.2:c.802C>T	ENSP00000502082.2:p.Gln268Ter
ENST00000675378.1:c.976C>T	ENSP00000502535.1:p.Gln326Ter
ENST00000675452.1:n.1225C>T
ENST00000675452.2:c.*941C>T	ENSP00000506954.1:n.*941C>T
ENST00000682217.1:c.844-3434C>T	ENSP00000507570.1:n.844-3434C>T
ENST00000682375.1:c.*806C>T	ENSP00000507551.1:n.*806C>T
ENST00000683052.1:c.778C>T	ENSP00000507072.1:p.Gln260Ter
ENST00000683199.1:n.998C>T
ENST00000683216.1:n.1245C>T
ENST00000683460.1:c.*2413C>T	ENSP00000507820.1:n.*2413C>T
ENST00000684453.1:n.2633C>T
ENST00000684621.1:n.900-3434C>T