Canonical Allele Identifier: CA359827448

Gene: ERCC8

Linked Data

• dbSNP Id: rs767533851
• gnomAD v3: 5-60904866-T-A
• gnomAD v4: 5-60904866-T-A
• MyVariant Identifiers: chr5:g.60200693T>A (hg19) ; chr5:g.60904866T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904866T>A , CM000667.2:g.60904866T>A	GRCh38
NC_000005.9:g.60200693T>A , CM000667.1:g.60200693T>A	GRCh37
NC_000005.8:g.60236450T>A	NCBI36
NG_009289.1:g.45213A>T , LRG_466:g.45213A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.407A>T	ENSP00000408344.2:p.Asp136Val
ENST00000647431.2:c.508A>T	ENSP00000494726.2:n.508A>T
ENST00000647486.2:c.407A>T	ENSP00000494466.2:p.Asp136Val
ENST00000675042.2:c.233A>T	ENSP00000502082.2:p.Asp78Val
ENST00000675452.2:c.*372A>T	ENSP00000506954.1:n.*372A>T
ENST00000682217.1:c.407A>T	ENSP00000507570.1:p.Asp136Val
ENST00000682246.1:n.463A>T
ENST00000682375.1:c.*237A>T	ENSP00000507551.1:n.*237A>T
ENST00000683052.1:c.209A>T	ENSP00000507072.1:p.Asp70Val
ENST00000683199.1:n.429A>T
ENST00000683216.1:n.672A>T
ENST00000683460.1:c.*237A>T	ENSP00000507820.1:n.*237A>T
ENST00000684394.1:n.462A>T
ENST00000684453.1:n.457A>T
ENST00000684621.1:n.463A>T
ENST00000265038.10:c.407A>T	ENSP00000265038.6:p.Asp136Val
ENST00000497892.6:c.*205A>T	ENSP00000501805.1:n.*205A>T
ENST00000643034.1:c.*299A>T	ENSP00000496080.1:n.*299A>T
ENST00000643708.1:c.*237A>T	ENSP00000494199.1:n.*237A>T
ENST00000647431.1:c.459A>T
ENST00000647486.1:c.358A>T
ENST00000675042.1:c.233A>T	ENSP00000502082.1:p.Asp78Val
ENST00000675229.1:c.407A>T	ENSP00000502154.1:p.Asp136Val
ENST00000675378.1:c.407A>T	ENSP00000502535.1:p.Asp136Val
ENST00000675452.1:n.656A>T
ENST00000675920.1:n.1015A>T
ENST00000676185.1:c.407A>T MANE Select	ENSP00000501614.1:p.Asp136Val
ENST00000265038.9:c.407A>T	ENSP00000265038.5:p.Asp136Val
ENST00000381118.7:c.*451A>T	ENSP00000370510.3:n.*451A>T
ENST00000439176.5:c.233A>T	ENSP00000408344.1:p.Asp78Val
ENST00000462279.5:n.252A>T
ENST00000484330.5:n.227-2358A>T
ENST00000495985.5:n.180A>T
ENST00000497892.5:n.450A>T
NM_000082.3:c.407A>T , LRG_466t1:c.407A>T	NP_000073.1:p.Asp136Val
NM_001007233.2:c.233A>T	NP_001007234.1:p.Asp78Val
NM_001007234.2:c.407A>T	NP_001007235.1:p.Asp136Val
NM_001290285.1:c.23-1150A>T	NP_001277214.1:n.23-1150A>T
NM_001007234.3:c.407A>T	NP_001007235.1:p.Asp136Val
NM_000082.4:c.407A>T MANE Select	NP_000073.1:p.Asp136Val
NM_001007233.3:c.233A>T	NP_001007234.1:p.Asp78Val
NM_001290285.2:c.23-1150A>T	NP_001277214.1:n.23-1150A>T