Canonical Allele Identifier: CA359828879

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60928961T>A , CM000667.2:g.60928961T>A	GRCh38
NC_000005.9:g.60224788T>A , CM000667.1:g.60224788T>A	GRCh37
NC_000005.8:g.60260545T>A	NCBI36
NG_009289.1:g.21118A>T , LRG_466:g.21118A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.78-2A>T MANE Select	NP_000073.1:n.78-2A>T
ENST00000676185.1:c.78-2A>T MANE Select	ENSP00000501614.1:n.78-2A>T
NM_000082.3:c.78-2A>T , LRG_466t1:c.78-2A>T	NP_000073.1:n.78-2A>T
NM_001007233.2:c.-315-2A>T	NP_001007234.1:n.-315-2A>T
NM_001007233.3:c.-315-2A>T	NP_001007234.1:n.-315-2A>T
NM_001007234.2:c.78-2A>T	NP_001007235.1:n.78-2A>T
NM_001007234.3:c.78-2A>T	NP_001007235.1:n.78-2A>T
NM_001290285.1:c.-300-2A>T	NP_001277214.1:n.-300-2A>T
NM_001290285.2:c.-300-2A>T	NP_001277214.1:n.-300-2A>T
ENST00000265038.10:c.78-2A>T	ENSP00000265038.6:n.78-2A>T
ENST00000265038.9:c.78-2A>T	ENSP00000265038.5:n.78-2A>T
ENST00000381118.7:c.78-2A>T	ENSP00000370510.3:n.78-2A>T
ENST00000439176.5:c.-97-2A>T	ENSP00000408344.1:n.-97-2A>T
ENST00000439176.6:c.78-2A>T	ENSP00000408344.2:n.78-2A>T
ENST00000477893.1:n.129-2A>T
ENST00000497892.5:n.121-2A>T
ENST00000497892.6:c.78-2A>T	ENSP00000501805.1:n.78-2A>T
ENST00000643034.1:c.78-2A>T	ENSP00000496080.1:n.78-2A>T
ENST00000643708.1:c.78-2A>T	ENSP00000494199.1:n.78-2A>T
ENST00000647431.1:c.29-2A>T
ENST00000647431.2:c.78-2A>T	ENSP00000494726.2:n.78-2A>T
ENST00000647486.1:c.29-2A>T
ENST00000647486.2:c.78-2A>T	ENSP00000494466.2:n.78-2A>T
ENST00000675042.1:c.-97-2A>T	ENSP00000502082.1:n.-97-2A>T
ENST00000675042.2:c.-97-2A>T	ENSP00000502082.2:n.-97-2A>T
ENST00000675229.1:c.78-2A>T	ENSP00000502154.1:n.78-2A>T
ENST00000675378.1:c.78-2A>T	ENSP00000502535.1:n.78-2A>T
ENST00000675452.2:c.78-2A>T	ENSP00000506954.1:n.78-2A>T
ENST00000675920.1:n.199-2A>T
ENST00000682041.1:n.128-2A>T
ENST00000682217.1:c.78-2A>T	ENSP00000507570.1:n.78-2A>T
ENST00000682246.1:n.134-2A>T
ENST00000682375.1:c.-97-2A>T	ENSP00000507551.1:n.-97-2A>T
ENST00000682380.1:n.134-2A>T
ENST00000682418.1:n.134-2A>T
ENST00000682874.1:n.128-2A>T
ENST00000683052.1:c.78-10573A>T	ENSP00000507072.1:n.78-10573A>T
ENST00000683199.1:n.100-2A>T
ENST00000683460.1:c.78-2A>T	ENSP00000507820.1:n.78-2A>T
ENST00000684394.1:n.133-2A>T
ENST00000684453.1:n.128-2A>T
ENST00000684621.1:n.134-2A>T