Canonical Allele Identifier: CA359822497

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183298G>C (hg19) ; chr5:g.60887471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887471G>C , CM000667.2:g.60887471G>C	GRCh38
NC_000005.9:g.60183298G>C , CM000667.1:g.60183298G>C	GRCh37
NC_000005.8:g.60219055G>C	NCBI36
NG_009289.1:g.62608C>G , LRG_466:g.62608C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10805C>G	ENSP00000408344.2:n.855+10805C>G
ENST00000647431.2:c.1192C>G	ENSP00000494726.2:n.1192C>G
ENST00000675042.2:c.917C>G	ENSP00000502082.2:p.Ser306Cys
ENST00000675452.2:c.*1056C>G	ENSP00000506954.1:n.*1056C>G
ENST00000682217.1:c.893C>G	ENSP00000507570.1:p.Ser298Cys
ENST00000682375.1:c.*921C>G	ENSP00000507551.1:n.*921C>G
ENST00000683052.1:c.893C>G	ENSP00000507072.1:p.Ser298Cys
ENST00000683216.1:n.4728C>G
ENST00000683460.1:c.*2528C>G	ENSP00000507820.1:n.*2528C>G
ENST00000683688.1:n.2837C>G
ENST00000684621.1:n.949C>G
ENST00000265038.10:c.1148C>G	ENSP00000265038.6:p.Ser383Cys
ENST00000643034.1:c.*983C>G	ENSP00000496080.1:n.*983C>G
ENST00000643708.1:c.*921C>G	ENSP00000494199.1:n.*921C>G
ENST00000647431.1:c.1143C>G
ENST00000675378.1:c.*92C>G	ENSP00000502535.1:n.*92C>G
ENST00000675452.1:n.1340C>G
ENST00000676185.1:c.1091C>G MANE Select	ENSP00000501614.1:p.Ser364Cys
ENST00000265038.9:c.1091C>G	ENSP00000265038.5:p.Ser364Cys
ENST00000381118.7:c.*1135C>G	ENSP00000370510.3:n.*1135C>G
ENST00000462279.5:n.2543C>G
NM_000082.3:c.1091C>G , LRG_466t1:c.1091C>G	NP_000073.1:p.Ser364Cys
NM_001007233.2:c.917C>G	NP_001007234.1:p.Ser306Cys
NM_001290285.1:c.632C>G	NP_001277214.1:p.Ser211Cys
NM_000082.4:c.1091C>G MANE Select	NP_000073.1:p.Ser364Cys
NM_001007233.3:c.917C>G	NP_001007234.1:p.Ser306Cys
NM_001290285.2:c.632C>G	NP_001277214.1:p.Ser211Cys