Canonical Allele Identifier: CA359822358

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183280G>T (hg19) ; chr5:g.60887453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887453G>T , CM000667.2:g.60887453G>T	GRCh38
NC_000005.9:g.60183280G>T , CM000667.1:g.60183280G>T	GRCh37
NC_000005.8:g.60219037G>T	NCBI36
NG_009289.1:g.62626C>A , LRG_466:g.62626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10823C>A	ENSP00000408344.2:n.855+10823C>A
ENST00000647431.2:c.1210C>A	ENSP00000494726.2:n.1210C>A
ENST00000675042.2:c.935C>A	ENSP00000502082.2:p.Pro312His
ENST00000675452.2:c.*1074C>A	ENSP00000506954.1:n.*1074C>A
ENST00000682217.1:c.911C>A	ENSP00000507570.1:p.Pro304His
ENST00000682375.1:c.*939C>A	ENSP00000507551.1:n.*939C>A
ENST00000683052.1:c.911C>A	ENSP00000507072.1:p.Pro304His
ENST00000683216.1:n.4746C>A
ENST00000683460.1:c.*2546C>A	ENSP00000507820.1:n.*2546C>A
ENST00000683688.1:n.2855C>A
ENST00000684621.1:n.967C>A
ENST00000265038.10:c.1166C>A	ENSP00000265038.6:p.Pro389His
ENST00000643034.1:c.*1001C>A	ENSP00000496080.1:n.*1001C>A
ENST00000643708.1:c.*939C>A	ENSP00000494199.1:n.*939C>A
ENST00000647431.1:c.1161C>A
ENST00000675378.1:c.*110C>A	ENSP00000502535.1:n.*110C>A
ENST00000675452.1:n.1358C>A
ENST00000676185.1:c.1109C>A MANE Select	ENSP00000501614.1:p.Pro370His
ENST00000265038.9:c.1109C>A	ENSP00000265038.5:p.Pro370His
ENST00000381118.7:c.*1153C>A	ENSP00000370510.3:n.*1153C>A
ENST00000462279.5:n.2561C>A
NM_000082.3:c.1109C>A , LRG_466t1:c.1109C>A	NP_000073.1:p.Pro370His
NM_001007233.2:c.935C>A	NP_001007234.1:p.Pro312His
NM_001290285.1:c.650C>A	NP_001277214.1:p.Pro217His
NM_000082.4:c.1109C>A MANE Select	NP_000073.1:p.Pro370His
NM_001007233.3:c.935C>A	NP_001007234.1:p.Pro312His
NM_001290285.2:c.650C>A	NP_001277214.1:p.Pro217His