Canonical Allele Identifier: CA3277658

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60890907T>C , CM000667.2:g.60890907T>C	GRCh38
NC_000005.9:g.60186734T>C , CM000667.1:g.60186734T>C	GRCh37
NC_000005.8:g.60222491T>C	NCBI36
NG_009289.1:g.59172A>G , LRG_466:g.59172A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.1023A>G MANE Select	NP_000073.1:p.Val341=
ENST00000676185.1:c.1023A>G MANE Select	ENSP00000501614.1:p.Val341=
NM_000082.3:c.1023A>G , LRG_466t1:c.1023A>G	NP_000073.1:p.Val341=
NM_001007233.2:c.849A>G	NP_001007234.1:p.Val283=
NM_001007233.3:c.849A>G	NP_001007234.1:p.Val283=
NM_001290285.1:c.564A>G	NP_001277214.1:p.Val188=
NM_001290285.2:c.564A>G	NP_001277214.1:p.Val188=
ENST00000265038.10:c.1080A>G	ENSP00000265038.6:p.Val360=
ENST00000265038.9:c.1023A>G	ENSP00000265038.5:p.Val341=
ENST00000381118.7:c.*1067A>G	ENSP00000370510.3:n.*1067A>G
ENST00000439176.6:c.855+7369A>G	ENSP00000408344.2:n.855+7369A>G
ENST00000462279.5:n.2475A>G
ENST00000643034.1:c.*915A>G	ENSP00000496080.1:n.*915A>G
ENST00000643708.1:c.*853A>G	ENSP00000494199.1:n.*853A>G
ENST00000647431.1:c.1075A>G
ENST00000647431.2:c.1124A>G	ENSP00000494726.2:n.1124A>G
ENST00000675042.2:c.849A>G	ENSP00000502082.2:p.Val283=
ENST00000675378.1:c.1023A>G	ENSP00000502535.1:p.Val341=
ENST00000675452.1:n.1272A>G
ENST00000675452.2:c.*988A>G	ENSP00000506954.1:n.*988A>G
ENST00000682217.1:c.844-3387A>G	ENSP00000507570.1:n.844-3387A>G
ENST00000682375.1:c.*853A>G	ENSP00000507551.1:n.*853A>G
ENST00000683052.1:c.825A>G	ENSP00000507072.1:p.Val275=
ENST00000683199.1:n.1045A>G
ENST00000683216.1:n.1292A>G
ENST00000683460.1:c.*2460A>G	ENSP00000507820.1:n.*2460A>G
ENST00000684453.1:n.2680A>G
ENST00000684621.1:n.900-3387A>G