Canonical Allele Identifier: CA3277623

Gene: ERCC8

Linked Data

• dbSNP Id: rs574268856
• ExAC: 5:60183276 A / T
• gnomAD v2: 5-60183276-A-T
• gnomAD v3: 5-60887449-A-T
• gnomAD v4: 5-60887449-A-T
• MyVariant Identifiers: chr5:g.60183276A>T (hg19) ; chr5:g.60887449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887449A>T , CM000667.2:g.60887449A>T	GRCh38
NC_000005.9:g.60183276A>T , CM000667.1:g.60183276A>T	GRCh37
NC_000005.8:g.60219033A>T	NCBI36
NG_009289.1:g.62630T>A , LRG_466:g.62630T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10827T>A	ENSP00000408344.2:n.855+10827T>A
ENST00000647431.2:c.1214T>A	ENSP00000494726.2:n.1214T>A
ENST00000675042.2:c.939T>A	ENSP00000502082.2:p.Asp313Glu
ENST00000675452.2:c.*1078T>A	ENSP00000506954.1:n.*1078T>A
ENST00000682217.1:c.915T>A	ENSP00000507570.1:p.Asp305Glu
ENST00000682375.1:c.*943T>A	ENSP00000507551.1:n.*943T>A
ENST00000683052.1:c.915T>A	ENSP00000507072.1:p.Asp305Glu
ENST00000683216.1:n.4750T>A
ENST00000683460.1:c.*2550T>A	ENSP00000507820.1:n.*2550T>A
ENST00000683688.1:n.2859T>A
ENST00000684621.1:n.971T>A
ENST00000265038.10:c.1170T>A	ENSP00000265038.6:p.Asp390Glu
ENST00000643034.1:c.*1005T>A	ENSP00000496080.1:n.*1005T>A
ENST00000643708.1:c.*943T>A	ENSP00000494199.1:n.*943T>A
ENST00000647431.1:c.1165T>A
ENST00000675378.1:c.*114T>A	ENSP00000502535.1:n.*114T>A
ENST00000675452.1:n.1362T>A
ENST00000676185.1:c.1113T>A MANE Select	ENSP00000501614.1:p.Asp371Glu
ENST00000265038.9:c.1113T>A	ENSP00000265038.5:p.Asp371Glu
ENST00000381118.7:c.*1157T>A	ENSP00000370510.3:n.*1157T>A
ENST00000462279.5:n.2565T>A
NM_000082.3:c.1113T>A , LRG_466t1:c.1113T>A	NP_000073.1:p.Asp371Glu
NM_001007233.2:c.939T>A	NP_001007234.1:p.Asp313Glu
NM_001290285.1:c.654T>A	NP_001277214.1:p.Asp218Glu
NM_000082.4:c.1113T>A MANE Select	NP_000073.1:p.Asp371Glu
NM_001007233.3:c.939T>A	NP_001007234.1:p.Asp313Glu
NM_001290285.2:c.654T>A	NP_001277214.1:p.Asp218Glu