Canonical Allele Identifier: CA359822285

Gene: ERCC8

Linked Data

• dbSNP Id: rs1748427458
• gnomAD v3: 5-60887443-A-C
• gnomAD v4: 5-60887443-A-C
• MyVariant Identifiers: chr5:g.60183270A>C (hg19) ; chr5:g.60887443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887443A>C , CM000667.2:g.60887443A>C	GRCh38
NC_000005.9:g.60183270A>C , CM000667.1:g.60183270A>C	GRCh37
NC_000005.8:g.60219027A>C	NCBI36
NG_009289.1:g.62636T>G , LRG_466:g.62636T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10833T>G	ENSP00000408344.2:n.855+10833T>G
ENST00000647431.2:c.1220T>G	ENSP00000494726.2:n.1220T>G
ENST00000675042.2:c.945T>G	ENSP00000502082.2:p.Asp315Glu
ENST00000675452.2:c.*1084T>G	ENSP00000506954.1:n.*1084T>G
ENST00000682217.1:c.921T>G	ENSP00000507570.1:p.Asp307Glu
ENST00000682375.1:c.*949T>G	ENSP00000507551.1:n.*949T>G
ENST00000683052.1:c.921T>G	ENSP00000507072.1:p.Asp307Glu
ENST00000683216.1:n.4756T>G
ENST00000683460.1:c.*2556T>G	ENSP00000507820.1:n.*2556T>G
ENST00000683688.1:n.2865T>G
ENST00000684621.1:n.977T>G
ENST00000265038.10:c.1176T>G	ENSP00000265038.6:p.Asp392Glu
ENST00000643034.1:c.*1011T>G	ENSP00000496080.1:n.*1011T>G
ENST00000643708.1:c.*949T>G	ENSP00000494199.1:n.*949T>G
ENST00000647431.1:c.1171T>G
ENST00000675378.1:c.*120T>G	ENSP00000502535.1:n.*120T>G
ENST00000675452.1:n.1368T>G
ENST00000676185.1:c.1119T>G MANE Select	ENSP00000501614.1:p.Asp373Glu
ENST00000265038.9:c.1119T>G	ENSP00000265038.5:p.Asp373Glu
ENST00000381118.7:c.*1163T>G	ENSP00000370510.3:n.*1163T>G
ENST00000462279.5:n.2571T>G
NM_000082.3:c.1119T>G , LRG_466t1:c.1119T>G	NP_000073.1:p.Asp373Glu
NM_001007233.2:c.945T>G	NP_001007234.1:p.Asp315Glu
NM_001290285.1:c.660T>G	NP_001277214.1:p.Asp220Glu
NM_000082.4:c.1119T>G MANE Select	NP_000073.1:p.Asp373Glu
NM_001007233.3:c.945T>G	NP_001007234.1:p.Asp315Glu
NM_001290285.2:c.660T>G	NP_001277214.1:p.Asp220Glu