Canonical Allele Identifier: CA359827423

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904860-A-T
• MyVariant Identifiers: chr5:g.60200687A>T (hg19) ; chr5:g.60904860A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904860A>T , CM000667.2:g.60904860A>T	GRCh38
NC_000005.9:g.60200687A>T , CM000667.1:g.60200687A>T	GRCh37
NC_000005.8:g.60236444A>T	NCBI36
NG_009289.1:g.45219T>A , LRG_466:g.45219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.413T>A	ENSP00000408344.2:p.Phe138Tyr
ENST00000647431.2:c.514T>A	ENSP00000494726.2:n.514T>A
ENST00000647486.2:c.413T>A	ENSP00000494466.2:p.Phe138Tyr
ENST00000675042.2:c.239T>A	ENSP00000502082.2:p.Phe80Tyr
ENST00000675452.2:c.*378T>A	ENSP00000506954.1:n.*378T>A
ENST00000682217.1:c.413T>A	ENSP00000507570.1:p.Phe138Tyr
ENST00000682246.1:n.469T>A
ENST00000682375.1:c.*243T>A	ENSP00000507551.1:n.*243T>A
ENST00000683052.1:c.215T>A	ENSP00000507072.1:p.Phe72Tyr
ENST00000683199.1:n.435T>A
ENST00000683216.1:n.678T>A
ENST00000683460.1:c.*243T>A	ENSP00000507820.1:n.*243T>A
ENST00000684394.1:n.468T>A
ENST00000684453.1:n.463T>A
ENST00000684621.1:n.469T>A
ENST00000265038.10:c.413T>A	ENSP00000265038.6:p.Phe138Tyr
ENST00000497892.6:c.*211T>A	ENSP00000501805.1:n.*211T>A
ENST00000643034.1:c.*305T>A	ENSP00000496080.1:n.*305T>A
ENST00000643708.1:c.*243T>A	ENSP00000494199.1:n.*243T>A
ENST00000647431.1:c.465T>A
ENST00000647486.1:c.364T>A
ENST00000675042.1:c.239T>A	ENSP00000502082.1:p.Phe80Tyr
ENST00000675229.1:c.413T>A	ENSP00000502154.1:p.Phe138Tyr
ENST00000675378.1:c.413T>A	ENSP00000502535.1:p.Phe138Tyr
ENST00000675452.1:n.662T>A
ENST00000675920.1:n.1021T>A
ENST00000676185.1:c.413T>A MANE Select	ENSP00000501614.1:p.Phe138Tyr
ENST00000265038.9:c.413T>A	ENSP00000265038.5:p.Phe138Tyr
ENST00000381118.7:c.*457T>A	ENSP00000370510.3:n.*457T>A
ENST00000439176.5:c.239T>A	ENSP00000408344.1:p.Phe80Tyr
ENST00000462279.5:n.258T>A
ENST00000484330.5:n.227-2352T>A
ENST00000495985.5:n.186T>A
ENST00000497892.5:n.456T>A
NM_000082.3:c.413T>A , LRG_466t1:c.413T>A	NP_000073.1:p.Phe138Tyr
NM_001007233.2:c.239T>A	NP_001007234.1:p.Phe80Tyr
NM_001007234.2:c.413T>A	NP_001007235.1:p.Phe138Tyr
NM_001290285.1:c.23-1144T>A	NP_001277214.1:n.23-1144T>A
NM_001007234.3:c.413T>A	NP_001007235.1:p.Phe138Tyr
NM_000082.4:c.413T>A MANE Select	NP_000073.1:p.Phe138Tyr
NM_001007233.3:c.239T>A	NP_001007234.1:p.Phe80Tyr
NM_001290285.2:c.23-1144T>A	NP_001277214.1:n.23-1144T>A