Canonical Allele Identifier: CA559820142

Gene: ERCC8

Linked Data

• dbSNP Id: rs1415805665
• gnomAD v2: 5-60183210-A-C
• gnomAD v3: 5-60887383-A-C
• gnomAD v4: 5-60887383-A-C
• MyVariant Identifiers: chr5:g.60183210A>C (hg19) ; chr5:g.60887383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887383A>C , CM000667.2:g.60887383A>C	GRCh38
NC_000005.9:g.60183210A>C , CM000667.1:g.60183210A>C	GRCh37
NC_000005.8:g.60218967A>C	NCBI36
NG_009289.1:g.62696T>G , LRG_466:g.62696T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10893T>G	ENSP00000408344.2:n.855+10893T>G
ENST00000647431.2:c.1223+57T>G	ENSP00000494726.2:n.1223+57T>G
ENST00000675042.2:c.948+57T>G	ENSP00000502082.2:n.948+57T>G
ENST00000675452.2:c.*1087+57T>G	ENSP00000506954.1:n.*1087+57T>G
ENST00000682217.1:c.924+57T>G	ENSP00000507570.1:n.924+57T>G
ENST00000682375.1:c.*952+57T>G	ENSP00000507551.1:n.*952+57T>G
ENST00000683052.1:c.924+57T>G	ENSP00000507072.1:n.924+57T>G
ENST00000683216.1:n.4759+57T>G
ENST00000683460.1:c.*2559+57T>G	ENSP00000507820.1:n.*2559+57T>G
ENST00000683688.1:n.2925T>G
ENST00000684621.1:n.1037T>G
ENST00000265038.10:c.1179+57T>G	ENSP00000265038.6:n.1179+57T>G
ENST00000643034.1:c.*1014+57T>G	ENSP00000496080.1:n.*1014+57T>G
ENST00000643708.1:c.*952+57T>G	ENSP00000494199.1:n.*952+57T>G
ENST00000647431.1:c.1174+57T>G
ENST00000675378.1:c.*123+57T>G	ENSP00000502535.1:n.*123+57T>G
ENST00000675452.1:n.1371+57T>G
ENST00000676185.1:c.1122+57T>G MANE Select	ENSP00000501614.1:n.1122+57T>G
ENST00000265038.9:c.1122+57T>G	ENSP00000265038.5:n.1122+57T>G
ENST00000381118.7:c.*1166+57T>G	ENSP00000370510.3:n.*1166+57T>G
ENST00000462279.5:n.2574+57T>G
NM_000082.3:c.1122+57T>G , LRG_466t1:c.1122+57T>G	NP_000073.1:n.1122+57T>G
NM_001007233.2:c.948+57T>G	NP_001007234.1:n.948+57T>G
NM_001290285.1:c.663+57T>G	NP_001277214.1:n.663+57T>G
NM_000082.4:c.1122+57T>G MANE Select	NP_000073.1:n.1122+57T>G
NM_001007233.3:c.948+57T>G	NP_001007234.1:n.948+57T>G
NM_001290285.2:c.663+57T>G	NP_001277214.1:n.663+57T>G