Canonical Allele Identifier: CA3277921

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60922155G>T , CM000667.2:g.60922155G>T	GRCh38
NC_000005.9:g.60217982G>T , CM000667.1:g.60217982G>T	GRCh37
NC_000005.8:g.60253739G>T	NCBI36
NG_009289.1:g.27924C>A , LRG_466:g.27924C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.174C>A MANE Select	NP_000073.1:p.Tyr58Ter
ENST00000676185.1:c.174C>A MANE Select	ENSP00000501614.1:p.Tyr58Ter
NM_000082.3:c.174C>A , LRG_466t1:c.174C>A	NP_000073.1:p.Tyr58Ter
NM_001007233.2:c.-1C>A	NP_001007234.1:n.-1C>A
NM_001007233.3:c.-1C>A	NP_001007234.1:n.-1C>A
NM_001007234.2:c.174C>A	NP_001007235.1:p.Tyr58Ter
NM_001007234.3:c.174C>A	NP_001007235.1:p.Tyr58Ter
NM_001290285.1:c.-204C>A	NP_001277214.1:n.-204C>A
NM_001290285.2:c.-204C>A	NP_001277214.1:n.-204C>A
ENST00000265038.10:c.174C>A	ENSP00000265038.6:p.Tyr58Ter
ENST00000265038.9:c.174C>A	ENSP00000265038.5:p.Tyr58Ter
ENST00000381118.7:c.*218C>A	ENSP00000370510.3:n.*218C>A
ENST00000439176.5:c.-1C>A	ENSP00000408344.1:n.-1C>A
ENST00000439176.6:c.174C>A	ENSP00000408344.2:p.Tyr58Ter
ENST00000477893.1:n.225C>A
ENST00000497892.5:n.217C>A
ENST00000497892.6:c.251C>A	ENSP00000501805.1:p.Ala84Glu
ENST00000643034.1:c.*66C>A	ENSP00000496080.1:n.*66C>A
ENST00000643708.1:c.174C>A	ENSP00000494199.1:p.Tyr58Ter
ENST00000647431.1:c.125C>A
ENST00000647431.2:c.174C>A	ENSP00000494726.2:p.Tyr58Ter
ENST00000647486.1:c.125C>A
ENST00000647486.2:c.174C>A	ENSP00000494466.2:p.Tyr58Ter
ENST00000675042.1:c.-1C>A	ENSP00000502082.1:n.-1C>A
ENST00000675042.2:c.-1C>A	ENSP00000502082.2:n.-1C>A
ENST00000675229.1:c.174C>A	ENSP00000502154.1:p.Tyr58Ter
ENST00000675378.1:c.174C>A	ENSP00000502535.1:p.Tyr58Ter
ENST00000675452.1:n.113C>A
ENST00000675452.2:c.*139C>A	ENSP00000506954.1:n.*139C>A
ENST00000675920.1:n.782C>A
ENST00000682217.1:c.174C>A	ENSP00000507570.1:p.Tyr58Ter
ENST00000682246.1:n.230C>A
ENST00000682375.1:c.-1C>A	ENSP00000507551.1:n.-1C>A
ENST00000682380.1:n.307C>A
ENST00000682418.1:n.230C>A
ENST00000682750.1:n.118C>A
ENST00000683052.1:c.78-3767C>A	ENSP00000507072.1:n.78-3767C>A
ENST00000683199.1:n.196C>A
ENST00000683460.1:c.174C>A	ENSP00000507820.1:p.Tyr58Ter
ENST00000684394.1:n.229C>A
ENST00000684453.1:n.224C>A
ENST00000684621.1:n.230C>A