Canonical Allele Identifier: CA359827292

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200663C>A (hg19) ; chr5:g.60904836C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904836C>A , CM000667.2:g.60904836C>A	GRCh38
NC_000005.9:g.60200663C>A , CM000667.1:g.60200663C>A	GRCh37
NC_000005.8:g.60236420C>A	NCBI36
NG_009289.1:g.45243G>T , LRG_466:g.45243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.437G>T	ENSP00000408344.2:p.Ser146Ile
ENST00000647431.2:c.538G>T	ENSP00000494726.2:n.538G>T
ENST00000647486.2:c.437G>T	ENSP00000494466.2:p.Ser146Ile
ENST00000675042.2:c.263G>T	ENSP00000502082.2:p.Ser88Ile
ENST00000675452.2:c.*402G>T	ENSP00000506954.1:n.*402G>T
ENST00000682217.1:c.437G>T	ENSP00000507570.1:p.Ser146Ile
ENST00000682246.1:n.493G>T
ENST00000682375.1:c.*267G>T	ENSP00000507551.1:n.*267G>T
ENST00000683052.1:c.239G>T	ENSP00000507072.1:p.Ser80Ile
ENST00000683199.1:n.459G>T
ENST00000683216.1:n.702G>T
ENST00000683460.1:c.*267G>T	ENSP00000507820.1:n.*267G>T
ENST00000684394.1:n.492G>T
ENST00000684453.1:n.487G>T
ENST00000684621.1:n.493G>T
ENST00000265038.10:c.437G>T	ENSP00000265038.6:p.Ser146Ile
ENST00000497892.6:c.*235G>T	ENSP00000501805.1:n.*235G>T
ENST00000643034.1:c.*329G>T	ENSP00000496080.1:n.*329G>T
ENST00000643708.1:c.*267G>T	ENSP00000494199.1:n.*267G>T
ENST00000647431.1:c.489G>T
ENST00000647486.1:c.388G>T
ENST00000675042.1:c.263G>T	ENSP00000502082.1:p.Ser88Ile
ENST00000675229.1:c.437G>T	ENSP00000502154.1:p.Ser146Ile
ENST00000675378.1:c.437G>T	ENSP00000502535.1:p.Ser146Ile
ENST00000675452.1:n.686G>T
ENST00000675920.1:n.1045G>T
ENST00000676185.1:c.437G>T MANE Select	ENSP00000501614.1:p.Ser146Ile
ENST00000265038.9:c.437G>T	ENSP00000265038.5:p.Ser146Ile
ENST00000381118.7:c.*481G>T	ENSP00000370510.3:n.*481G>T
ENST00000439176.5:c.263G>T	ENSP00000408344.1:p.Ser88Ile
ENST00000462279.5:n.282G>T
ENST00000484330.5:n.227-2328G>T
ENST00000495985.5:n.210G>T
ENST00000497892.5:n.480G>T
NM_000082.3:c.437G>T , LRG_466t1:c.437G>T	NP_000073.1:p.Ser146Ile
NM_001007233.2:c.263G>T	NP_001007234.1:p.Ser88Ile
NM_001007234.2:c.437G>T	NP_001007235.1:p.Ser146Ile
NM_001290285.1:c.23-1120G>T	NP_001277214.1:n.23-1120G>T
NM_001007234.3:c.437G>T	NP_001007235.1:p.Ser146Ile
NM_000082.4:c.437G>T MANE Select	NP_000073.1:p.Ser146Ile
NM_001007233.3:c.263G>T	NP_001007234.1:p.Ser88Ile
NM_001290285.2:c.23-1120G>T	NP_001277214.1:n.23-1120G>T