Canonical Allele Identifier: CA359822523

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183304A>G (hg19) ; chr5:g.60887477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887477A>G , CM000667.2:g.60887477A>G	GRCh38
NC_000005.9:g.60183304A>G , CM000667.1:g.60183304A>G	GRCh37
NC_000005.8:g.60219061A>G	NCBI36
NG_009289.1:g.62602T>C , LRG_466:g.62602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10799T>C	ENSP00000408344.2:n.855+10799T>C
ENST00000647431.2:c.1186T>C	ENSP00000494726.2:n.1186T>C
ENST00000675042.2:c.911T>C	ENSP00000502082.2:p.Val304Ala
ENST00000675452.2:c.*1050T>C	ENSP00000506954.1:n.*1050T>C
ENST00000682217.1:c.887T>C	ENSP00000507570.1:p.Val296Ala
ENST00000682375.1:c.*915T>C	ENSP00000507551.1:n.*915T>C
ENST00000683052.1:c.887T>C	ENSP00000507072.1:p.Val296Ala
ENST00000683216.1:n.4722T>C
ENST00000683460.1:c.*2522T>C	ENSP00000507820.1:n.*2522T>C
ENST00000683688.1:n.2831T>C
ENST00000684621.1:n.943T>C
ENST00000265038.10:c.1142T>C	ENSP00000265038.6:p.Val381Ala
ENST00000643034.1:c.*977T>C	ENSP00000496080.1:n.*977T>C
ENST00000643708.1:c.*915T>C	ENSP00000494199.1:n.*915T>C
ENST00000647431.1:c.1137T>C
ENST00000675378.1:c.*86T>C	ENSP00000502535.1:n.*86T>C
ENST00000675452.1:n.1334T>C
ENST00000676185.1:c.1085T>C MANE Select	ENSP00000501614.1:p.Val362Ala
ENST00000265038.9:c.1085T>C	ENSP00000265038.5:p.Val362Ala
ENST00000381118.7:c.*1129T>C	ENSP00000370510.3:n.*1129T>C
ENST00000462279.5:n.2537T>C
NM_000082.3:c.1085T>C , LRG_466t1:c.1085T>C	NP_000073.1:p.Val362Ala
NM_001007233.2:c.911T>C	NP_001007234.1:p.Val304Ala
NM_001290285.1:c.626T>C	NP_001277214.1:p.Val209Ala
NM_000082.4:c.1085T>C MANE Select	NP_000073.1:p.Val362Ala
NM_001007233.3:c.911T>C	NP_001007234.1:p.Val304Ala
NM_001290285.2:c.626T>C	NP_001277214.1:p.Val209Ala