Canonical Allele Identifier: CA359822493

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183296A>C (hg19) ; chr5:g.60887469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887469A>C , CM000667.2:g.60887469A>C	GRCh38
NC_000005.9:g.60183296A>C , CM000667.1:g.60183296A>C	GRCh37
NC_000005.8:g.60219053A>C	NCBI36
NG_009289.1:g.62610T>G , LRG_466:g.62610T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10807T>G	ENSP00000408344.2:n.855+10807T>G
ENST00000647431.2:c.1194T>G	ENSP00000494726.2:n.1194T>G
ENST00000675042.2:c.919T>G	ENSP00000502082.2:p.Leu307Val
ENST00000675452.2:c.*1058T>G	ENSP00000506954.1:n.*1058T>G
ENST00000682217.1:c.895T>G	ENSP00000507570.1:p.Leu299Val
ENST00000682375.1:c.*923T>G	ENSP00000507551.1:n.*923T>G
ENST00000683052.1:c.895T>G	ENSP00000507072.1:p.Leu299Val
ENST00000683216.1:n.4730T>G
ENST00000683460.1:c.*2530T>G	ENSP00000507820.1:n.*2530T>G
ENST00000683688.1:n.2839T>G
ENST00000684621.1:n.951T>G
ENST00000265038.10:c.1150T>G	ENSP00000265038.6:p.Leu384Val
ENST00000643034.1:c.*985T>G	ENSP00000496080.1:n.*985T>G
ENST00000643708.1:c.*923T>G	ENSP00000494199.1:n.*923T>G
ENST00000647431.1:c.1145T>G
ENST00000675378.1:c.*94T>G	ENSP00000502535.1:n.*94T>G
ENST00000675452.1:n.1342T>G
ENST00000676185.1:c.1093T>G MANE Select	ENSP00000501614.1:p.Leu365Val
ENST00000265038.9:c.1093T>G	ENSP00000265038.5:p.Leu365Val
ENST00000381118.7:c.*1137T>G	ENSP00000370510.3:n.*1137T>G
ENST00000462279.5:n.2545T>G
NM_000082.3:c.1093T>G , LRG_466t1:c.1093T>G	NP_000073.1:p.Leu365Val
NM_001007233.2:c.919T>G	NP_001007234.1:p.Leu307Val
NM_001290285.1:c.634T>G	NP_001277214.1:p.Leu212Val
NM_000082.4:c.1093T>G MANE Select	NP_000073.1:p.Leu365Val
NM_001007233.3:c.919T>G	NP_001007234.1:p.Leu307Val
NM_001290285.2:c.634T>G	NP_001277214.1:p.Leu212Val