Canonical Allele Identifier: CA359822389

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183284C>A (hg19) ; chr5:g.60887457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887457C>A , CM000667.2:g.60887457C>A	GRCh38
NC_000005.9:g.60183284C>A , CM000667.1:g.60183284C>A	GRCh37
NC_000005.8:g.60219041C>A	NCBI36
NG_009289.1:g.62622G>T , LRG_466:g.62622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10819G>T	ENSP00000408344.2:n.855+10819G>T
ENST00000647431.2:c.1206G>T	ENSP00000494726.2:n.1206G>T
ENST00000675042.2:c.931G>T	ENSP00000502082.2:p.Val311Phe
ENST00000675452.2:c.*1070G>T	ENSP00000506954.1:n.*1070G>T
ENST00000682217.1:c.907G>T	ENSP00000507570.1:p.Val303Phe
ENST00000682375.1:c.*935G>T	ENSP00000507551.1:n.*935G>T
ENST00000683052.1:c.907G>T	ENSP00000507072.1:p.Val303Phe
ENST00000683216.1:n.4742G>T
ENST00000683460.1:c.*2542G>T	ENSP00000507820.1:n.*2542G>T
ENST00000683688.1:n.2851G>T
ENST00000684621.1:n.963G>T
ENST00000265038.10:c.1162G>T	ENSP00000265038.6:p.Val388Phe
ENST00000643034.1:c.*997G>T	ENSP00000496080.1:n.*997G>T
ENST00000643708.1:c.*935G>T	ENSP00000494199.1:n.*935G>T
ENST00000647431.1:c.1157G>T
ENST00000675378.1:c.*106G>T	ENSP00000502535.1:n.*106G>T
ENST00000675452.1:n.1354G>T
ENST00000676185.1:c.1105G>T MANE Select	ENSP00000501614.1:p.Val369Phe
ENST00000265038.9:c.1105G>T	ENSP00000265038.5:p.Val369Phe
ENST00000381118.7:c.*1149G>T	ENSP00000370510.3:n.*1149G>T
ENST00000462279.5:n.2557G>T
NM_000082.3:c.1105G>T , LRG_466t1:c.1105G>T	NP_000073.1:p.Val369Phe
NM_001007233.2:c.931G>T	NP_001007234.1:p.Val311Phe
NM_001290285.1:c.646G>T	NP_001277214.1:p.Val216Phe
NM_000082.4:c.1105G>T MANE Select	NP_000073.1:p.Val369Phe
NM_001007233.3:c.931G>T	NP_001007234.1:p.Val311Phe
NM_001290285.2:c.646G>T	NP_001277214.1:p.Val216Phe