Canonical Allele Identifier: CA444462614

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183300T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887473T>A , CM000667.2:g.60887473T>A	GRCh38
NC_000005.9:g.60183300T>A , CM000667.1:g.60183300T>A	GRCh37
NC_000005.8:g.60219057T>A	NCBI36
NG_009289.1:g.62606A>T , LRG_466:g.62606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10803A>T	ENSP00000408344.2:n.855+10803A>T
ENST00000647431.2:c.1190A>T	ENSP00000494726.2:n.1190A>T
ENST00000675042.2:c.915A>T	ENSP00000502082.2:p.Pro305=
ENST00000675452.2:c.*1054A>T	ENSP00000506954.1:n.*1054A>T
ENST00000682217.1:c.891A>T	ENSP00000507570.1:p.Pro297=
ENST00000682375.1:c.*919A>T	ENSP00000507551.1:n.*919A>T
ENST00000683052.1:c.891A>T	ENSP00000507072.1:p.Pro297=
ENST00000683216.1:n.4726A>T
ENST00000683460.1:c.*2526A>T	ENSP00000507820.1:n.*2526A>T
ENST00000683688.1:n.2835A>T
ENST00000684621.1:n.947A>T
ENST00000265038.10:c.1146A>T	ENSP00000265038.6:p.Pro382=
ENST00000643034.1:c.*981A>T	ENSP00000496080.1:n.*981A>T
ENST00000643708.1:c.*919A>T	ENSP00000494199.1:n.*919A>T
ENST00000647431.1:c.1141A>T
ENST00000675378.1:c.*90A>T	ENSP00000502535.1:n.*90A>T
ENST00000675452.1:n.1338A>T
ENST00000676185.1:c.1089A>T MANE Select	ENSP00000501614.1:p.Pro363=
ENST00000265038.9:c.1089A>T	ENSP00000265038.5:p.Pro363=
ENST00000381118.7:c.*1133A>T	ENSP00000370510.3:n.*1133A>T
ENST00000462279.5:n.2541A>T
NM_000082.3:c.1089A>T , LRG_466t1:c.1089A>T	NP_000073.1:p.Pro363=
NM_001007233.2:c.915A>T	NP_001007234.1:p.Pro305=
NM_001290285.1:c.630A>T	NP_001277214.1:p.Pro210=
NM_000082.4:c.1089A>T MANE Select	NP_000073.1:p.Pro363=
NM_001007233.3:c.915A>T	NP_001007234.1:p.Pro305=
NM_001290285.2:c.630A>T	NP_001277214.1:p.Pro210=