Canonical Allele Identifier: CA359827336

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904845-G-T
• MyVariant Identifiers: chr5:g.60200672G>T (hg19) ; chr5:g.60904845G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904845G>T , CM000667.2:g.60904845G>T	GRCh38
NC_000005.9:g.60200672G>T , CM000667.1:g.60200672G>T	GRCh37
NC_000005.8:g.60236429G>T	NCBI36
NG_009289.1:g.45234C>A , LRG_466:g.45234C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.428C>A	ENSP00000408344.2:p.Thr143Lys
ENST00000647431.2:c.529C>A	ENSP00000494726.2:n.529C>A
ENST00000647486.2:c.428C>A	ENSP00000494466.2:p.Thr143Lys
ENST00000675042.2:c.254C>A	ENSP00000502082.2:p.Thr85Lys
ENST00000675452.2:c.*393C>A	ENSP00000506954.1:n.*393C>A
ENST00000682217.1:c.428C>A	ENSP00000507570.1:p.Thr143Lys
ENST00000682246.1:n.484C>A
ENST00000682375.1:c.*258C>A	ENSP00000507551.1:n.*258C>A
ENST00000683052.1:c.230C>A	ENSP00000507072.1:p.Thr77Lys
ENST00000683199.1:n.450C>A
ENST00000683216.1:n.693C>A
ENST00000683460.1:c.*258C>A	ENSP00000507820.1:n.*258C>A
ENST00000684394.1:n.483C>A
ENST00000684453.1:n.478C>A
ENST00000684621.1:n.484C>A
ENST00000265038.10:c.428C>A	ENSP00000265038.6:p.Thr143Lys
ENST00000497892.6:c.*226C>A	ENSP00000501805.1:n.*226C>A
ENST00000643034.1:c.*320C>A	ENSP00000496080.1:n.*320C>A
ENST00000643708.1:c.*258C>A	ENSP00000494199.1:n.*258C>A
ENST00000647431.1:c.480C>A
ENST00000647486.1:c.379C>A
ENST00000675042.1:c.254C>A	ENSP00000502082.1:p.Thr85Lys
ENST00000675229.1:c.428C>A	ENSP00000502154.1:p.Thr143Lys
ENST00000675378.1:c.428C>A	ENSP00000502535.1:p.Thr143Lys
ENST00000675452.1:n.677C>A
ENST00000675920.1:n.1036C>A
ENST00000676185.1:c.428C>A MANE Select	ENSP00000501614.1:p.Thr143Lys
ENST00000265038.9:c.428C>A	ENSP00000265038.5:p.Thr143Lys
ENST00000381118.7:c.*472C>A	ENSP00000370510.3:n.*472C>A
ENST00000439176.5:c.254C>A	ENSP00000408344.1:p.Thr85Lys
ENST00000462279.5:n.273C>A
ENST00000484330.5:n.227-2337C>A
ENST00000495985.5:n.201C>A
ENST00000497892.5:n.471C>A
NM_000082.3:c.428C>A , LRG_466t1:c.428C>A	NP_000073.1:p.Thr143Lys
NM_001007233.2:c.254C>A	NP_001007234.1:p.Thr85Lys
NM_001007234.2:c.428C>A	NP_001007235.1:p.Thr143Lys
NM_001290285.1:c.23-1129C>A	NP_001277214.1:n.23-1129C>A
NM_001007234.3:c.428C>A	NP_001007235.1:p.Thr143Lys
NM_000082.4:c.428C>A MANE Select	NP_000073.1:p.Thr143Lys
NM_001007233.3:c.254C>A	NP_001007234.1:p.Thr85Lys
NM_001290285.2:c.23-1129C>A	NP_001277214.1:n.23-1129C>A