Canonical Allele Identifier: CA359825148

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60898402T>A , CM000667.2:g.60898402T>A	GRCh38
NC_000005.9:g.60194229T>A , CM000667.1:g.60194229T>A	GRCh37
NC_000005.8:g.60229986T>A	NCBI36
NG_009289.1:g.51677A>T , LRG_466:g.51677A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.719-2A>T MANE Select	NP_000073.1:n.719-2A>T
ENST00000676185.1:c.719-2A>T MANE Select	ENSP00000501614.1:n.719-2A>T
NM_000082.3:c.719-2A>T , LRG_466t1:c.719-2A>T	NP_000073.1:n.719-2A>T
NM_001007233.2:c.545-2A>T	NP_001007234.1:n.545-2A>T
NM_001007233.3:c.545-2A>T	NP_001007234.1:n.545-2A>T
NM_001290285.1:c.260-2A>T	NP_001277214.1:n.260-2A>T
NM_001290285.2:c.260-2A>T	NP_001277214.1:n.260-2A>T
ENST00000265038.10:c.719-2A>T	ENSP00000265038.6:n.719-2A>T
ENST00000265038.9:c.719-2A>T	ENSP00000265038.5:n.719-2A>T
ENST00000381118.7:c.*763-2A>T	ENSP00000370510.3:n.*763-2A>T
ENST00000439176.6:c.731-2A>T	ENSP00000408344.2:n.731-2A>T
ENST00000462279.5:n.564-2A>T
ENST00000484330.5:n.395-2A>T
ENST00000495985.5:n.496-2A>T
ENST00000643034.1:c.*611-2A>T	ENSP00000496080.1:n.*611-2A>T
ENST00000643708.1:c.*549-2A>T	ENSP00000494199.1:n.*549-2A>T
ENST00000647431.1:c.771-2A>T
ENST00000647431.2:c.820-2A>T	ENSP00000494726.2:n.820-2A>T
ENST00000647486.1:c.941-2A>T
ENST00000647486.2:c.990-2A>T	ENSP00000494466.2:n.990-2A>T
ENST00000675042.2:c.545-2A>T	ENSP00000502082.2:n.545-2A>T
ENST00000675378.1:c.719-2A>T	ENSP00000502535.1:n.719-2A>T
ENST00000675452.1:n.968-2A>T
ENST00000675452.2:c.*684-2A>T	ENSP00000506954.1:n.*684-2A>T
ENST00000682217.1:c.719-2A>T	ENSP00000507570.1:n.719-2A>T
ENST00000682246.1:n.775-2A>T
ENST00000682375.1:c.*549-2A>T	ENSP00000507551.1:n.*549-2A>T
ENST00000683052.1:c.521-2A>T	ENSP00000507072.1:n.521-2A>T
ENST00000683199.1:n.741-2A>T
ENST00000683216.1:n.988-2A>T
ENST00000683460.1:c.*549-2A>T	ENSP00000507820.1:n.*549-2A>T
ENST00000684394.1:n.774-2A>T
ENST00000684453.1:n.769-2A>T
ENST00000684621.1:n.775-2A>T