Canonical Allele Identifier: CA359822294

Gene: ERCC8

Linked Data

• dbSNP Id: rs757164182
• gnomAD v4: 5-60887444-T-C
• MyVariant Identifiers: chr5:g.60183271T>C (hg19) ; chr5:g.60887444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887444T>C , CM000667.2:g.60887444T>C	GRCh38
NC_000005.9:g.60183271T>C , CM000667.1:g.60183271T>C	GRCh37
NC_000005.8:g.60219028T>C	NCBI36
NG_009289.1:g.62635A>G , LRG_466:g.62635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10832A>G	ENSP00000408344.2:n.855+10832A>G
ENST00000647431.2:c.1219A>G	ENSP00000494726.2:n.1219A>G
ENST00000675042.2:c.944A>G	ENSP00000502082.2:p.Asp315Gly
ENST00000675452.2:c.*1083A>G	ENSP00000506954.1:n.*1083A>G
ENST00000682217.1:c.920A>G	ENSP00000507570.1:p.Asp307Gly
ENST00000682375.1:c.*948A>G	ENSP00000507551.1:n.*948A>G
ENST00000683052.1:c.920A>G	ENSP00000507072.1:p.Asp307Gly
ENST00000683216.1:n.4755A>G
ENST00000683460.1:c.*2555A>G	ENSP00000507820.1:n.*2555A>G
ENST00000683688.1:n.2864A>G
ENST00000684621.1:n.976A>G
ENST00000265038.10:c.1175A>G	ENSP00000265038.6:p.Asp392Gly
ENST00000643034.1:c.*1010A>G	ENSP00000496080.1:n.*1010A>G
ENST00000643708.1:c.*948A>G	ENSP00000494199.1:n.*948A>G
ENST00000647431.1:c.1170A>G
ENST00000675378.1:c.*119A>G	ENSP00000502535.1:n.*119A>G
ENST00000675452.1:n.1367A>G
ENST00000676185.1:c.1118A>G MANE Select	ENSP00000501614.1:p.Asp373Gly
ENST00000265038.9:c.1118A>G	ENSP00000265038.5:p.Asp373Gly
ENST00000381118.7:c.*1162A>G	ENSP00000370510.3:n.*1162A>G
ENST00000462279.5:n.2570A>G
NM_000082.3:c.1118A>G , LRG_466t1:c.1118A>G	NP_000073.1:p.Asp373Gly
NM_001007233.2:c.944A>G	NP_001007234.1:p.Asp315Gly
NM_001290285.1:c.659A>G	NP_001277214.1:p.Asp220Gly
NM_000082.4:c.1118A>G MANE Select	NP_000073.1:p.Asp373Gly
NM_001007233.3:c.944A>G	NP_001007234.1:p.Asp315Gly
NM_001290285.2:c.659A>G	NP_001277214.1:p.Asp220Gly