Canonical Allele Identifier: CA359822458

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183292T>G (hg19) ; chr5:g.60887465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887465T>G , CM000667.2:g.60887465T>G	GRCh38
NC_000005.9:g.60183292T>G , CM000667.1:g.60183292T>G	GRCh37
NC_000005.8:g.60219049T>G	NCBI36
NG_009289.1:g.62614A>C , LRG_466:g.62614A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10811A>C	ENSP00000408344.2:n.855+10811A>C
ENST00000647431.2:c.1198A>C	ENSP00000494726.2:n.1198A>C
ENST00000675042.2:c.923A>C	ENSP00000502082.2:p.Tyr308Ser
ENST00000675452.2:c.*1062A>C	ENSP00000506954.1:n.*1062A>C
ENST00000682217.1:c.899A>C	ENSP00000507570.1:p.Tyr300Ser
ENST00000682375.1:c.*927A>C	ENSP00000507551.1:n.*927A>C
ENST00000683052.1:c.899A>C	ENSP00000507072.1:p.Tyr300Ser
ENST00000683216.1:n.4734A>C
ENST00000683460.1:c.*2534A>C	ENSP00000507820.1:n.*2534A>C
ENST00000683688.1:n.2843A>C
ENST00000684621.1:n.955A>C
ENST00000265038.10:c.1154A>C	ENSP00000265038.6:p.Tyr385Ser
ENST00000643034.1:c.*989A>C	ENSP00000496080.1:n.*989A>C
ENST00000643708.1:c.*927A>C	ENSP00000494199.1:n.*927A>C
ENST00000647431.1:c.1149A>C
ENST00000675378.1:c.*98A>C	ENSP00000502535.1:n.*98A>C
ENST00000675452.1:n.1346A>C
ENST00000676185.1:c.1097A>C MANE Select	ENSP00000501614.1:p.Tyr366Ser
ENST00000265038.9:c.1097A>C	ENSP00000265038.5:p.Tyr366Ser
ENST00000381118.7:c.*1141A>C	ENSP00000370510.3:n.*1141A>C
ENST00000462279.5:n.2549A>C
NM_000082.3:c.1097A>C , LRG_466t1:c.1097A>C	NP_000073.1:p.Tyr366Ser
NM_001007233.2:c.923A>C	NP_001007234.1:p.Tyr308Ser
NM_001290285.1:c.638A>C	NP_001277214.1:p.Tyr213Ser
NM_000082.4:c.1097A>C MANE Select	NP_000073.1:p.Tyr366Ser
NM_001007233.3:c.923A>C	NP_001007234.1:p.Tyr308Ser
NM_001290285.2:c.638A>C	NP_001277214.1:p.Tyr213Ser