Canonical Allele Identifier: CA444468328

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200698A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904871A>T , CM000667.2:g.60904871A>T	GRCh38
NC_000005.9:g.60200698A>T , CM000667.1:g.60200698A>T	GRCh37
NC_000005.8:g.60236455A>T	NCBI36
NG_009289.1:g.45208T>A , LRG_466:g.45208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.402T>A	ENSP00000408344.2:p.Thr134=
ENST00000647431.2:c.503T>A	ENSP00000494726.2:n.503T>A
ENST00000647486.2:c.402T>A	ENSP00000494466.2:p.Thr134=
ENST00000675042.2:c.228T>A	ENSP00000502082.2:p.Thr76=
ENST00000675452.2:c.*367T>A	ENSP00000506954.1:n.*367T>A
ENST00000682217.1:c.402T>A	ENSP00000507570.1:p.Thr134=
ENST00000682246.1:n.458T>A
ENST00000682375.1:c.*232T>A	ENSP00000507551.1:n.*232T>A
ENST00000683052.1:c.204T>A	ENSP00000507072.1:p.Thr68=
ENST00000683199.1:n.424T>A
ENST00000683216.1:n.667T>A
ENST00000683460.1:c.*232T>A	ENSP00000507820.1:n.*232T>A
ENST00000684394.1:n.457T>A
ENST00000684453.1:n.452T>A
ENST00000684621.1:n.458T>A
ENST00000265038.10:c.402T>A	ENSP00000265038.6:p.Thr134=
ENST00000497892.6:c.*200T>A	ENSP00000501805.1:n.*200T>A
ENST00000643034.1:c.*294T>A	ENSP00000496080.1:n.*294T>A
ENST00000643708.1:c.*232T>A	ENSP00000494199.1:n.*232T>A
ENST00000647431.1:c.454T>A
ENST00000647486.1:c.353T>A
ENST00000675042.1:c.228T>A	ENSP00000502082.1:p.Thr76=
ENST00000675229.1:c.402T>A	ENSP00000502154.1:p.Thr134=
ENST00000675378.1:c.402T>A	ENSP00000502535.1:p.Thr134=
ENST00000675452.1:n.651T>A
ENST00000675920.1:n.1010T>A
ENST00000676185.1:c.402T>A MANE Select	ENSP00000501614.1:p.Thr134=
ENST00000265038.9:c.402T>A	ENSP00000265038.5:p.Thr134=
ENST00000381118.7:c.*446T>A	ENSP00000370510.3:n.*446T>A
ENST00000439176.5:c.228T>A	ENSP00000408344.1:p.Thr76=
ENST00000462279.5:n.247T>A
ENST00000484330.5:n.227-2363T>A
ENST00000495985.5:n.175T>A
ENST00000497892.5:n.445T>A
NM_000082.3:c.402T>A , LRG_466t1:c.402T>A	NP_000073.1:p.Thr134=
NM_001007233.2:c.228T>A	NP_001007234.1:p.Thr76=
NM_001007234.2:c.402T>A	NP_001007235.1:p.Thr134=
NM_001290285.1:c.23-1155T>A	NP_001277214.1:n.23-1155T>A
NM_001007234.3:c.402T>A	NP_001007235.1:p.Thr134=
NM_000082.4:c.402T>A MANE Select	NP_000073.1:p.Thr134=
NM_001007233.3:c.228T>A	NP_001007234.1:p.Thr76=
NM_001290285.2:c.23-1155T>A	NP_001277214.1:n.23-1155T>A