Canonical Allele Identifier: CA359827307

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200666T>G (hg19) ; chr5:g.60904839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904839T>G , CM000667.2:g.60904839T>G	GRCh38
NC_000005.9:g.60200666T>G , CM000667.1:g.60200666T>G	GRCh37
NC_000005.8:g.60236423T>G	NCBI36
NG_009289.1:g.45240A>C , LRG_466:g.45240A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.434A>C	ENSP00000408344.2:p.Tyr145Ser
ENST00000647431.2:c.535A>C	ENSP00000494726.2:n.535A>C
ENST00000647486.2:c.434A>C	ENSP00000494466.2:p.Tyr145Ser
ENST00000675042.2:c.260A>C	ENSP00000502082.2:p.Tyr87Ser
ENST00000675452.2:c.*399A>C	ENSP00000506954.1:n.*399A>C
ENST00000682217.1:c.434A>C	ENSP00000507570.1:p.Tyr145Ser
ENST00000682246.1:n.490A>C
ENST00000682375.1:c.*264A>C	ENSP00000507551.1:n.*264A>C
ENST00000683052.1:c.236A>C	ENSP00000507072.1:p.Tyr79Ser
ENST00000683199.1:n.456A>C
ENST00000683216.1:n.699A>C
ENST00000683460.1:c.*264A>C	ENSP00000507820.1:n.*264A>C
ENST00000684394.1:n.489A>C
ENST00000684453.1:n.484A>C
ENST00000684621.1:n.490A>C
ENST00000265038.10:c.434A>C	ENSP00000265038.6:p.Tyr145Ser
ENST00000497892.6:c.*232A>C	ENSP00000501805.1:n.*232A>C
ENST00000643034.1:c.*326A>C	ENSP00000496080.1:n.*326A>C
ENST00000643708.1:c.*264A>C	ENSP00000494199.1:n.*264A>C
ENST00000647431.1:c.486A>C
ENST00000647486.1:c.385A>C
ENST00000675042.1:c.260A>C	ENSP00000502082.1:p.Tyr87Ser
ENST00000675229.1:c.434A>C	ENSP00000502154.1:p.Tyr145Ser
ENST00000675378.1:c.434A>C	ENSP00000502535.1:p.Tyr145Ser
ENST00000675452.1:n.683A>C
ENST00000675920.1:n.1042A>C
ENST00000676185.1:c.434A>C MANE Select	ENSP00000501614.1:p.Tyr145Ser
ENST00000265038.9:c.434A>C	ENSP00000265038.5:p.Tyr145Ser
ENST00000381118.7:c.*478A>C	ENSP00000370510.3:n.*478A>C
ENST00000439176.5:c.260A>C	ENSP00000408344.1:p.Tyr87Ser
ENST00000462279.5:n.279A>C
ENST00000484330.5:n.227-2331A>C
ENST00000495985.5:n.207A>C
ENST00000497892.5:n.477A>C
NM_000082.3:c.434A>C , LRG_466t1:c.434A>C	NP_000073.1:p.Tyr145Ser
NM_001007233.2:c.260A>C	NP_001007234.1:p.Tyr87Ser
NM_001007234.2:c.434A>C	NP_001007235.1:p.Tyr145Ser
NM_001290285.1:c.23-1123A>C	NP_001277214.1:n.23-1123A>C
NM_001007234.3:c.434A>C	NP_001007235.1:p.Tyr145Ser
NM_000082.4:c.434A>C MANE Select	NP_000073.1:p.Tyr145Ser
NM_001007233.3:c.260A>C	NP_001007234.1:p.Tyr87Ser
NM_001290285.2:c.23-1123A>C	NP_001277214.1:n.23-1123A>C