Canonical Allele Identifier: CA359827087

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200619C>G (hg19) ; chr5:g.60904792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904792C>G , CM000667.2:g.60904792C>G	GRCh38
NC_000005.9:g.60200619C>G , CM000667.1:g.60200619C>G	GRCh37
NC_000005.8:g.60236376C>G	NCBI36
NG_009289.1:g.45287G>C , LRG_466:g.45287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481G>C	ENSP00000408344.2:p.Val161Leu
ENST00000647431.2:c.582G>C	ENSP00000494726.2:n.582G>C
ENST00000647486.2:c.481G>C	ENSP00000494466.2:p.Val161Leu
ENST00000675042.2:c.307G>C	ENSP00000502082.2:p.Val103Leu
ENST00000675452.2:c.*446G>C	ENSP00000506954.1:n.*446G>C
ENST00000682217.1:c.481G>C	ENSP00000507570.1:p.Val161Leu
ENST00000682246.1:n.537G>C
ENST00000682375.1:c.*311G>C	ENSP00000507551.1:n.*311G>C
ENST00000683052.1:c.283G>C	ENSP00000507072.1:p.Val95Leu
ENST00000683199.1:n.503G>C
ENST00000683216.1:n.746G>C
ENST00000683460.1:c.*311G>C	ENSP00000507820.1:n.*311G>C
ENST00000684394.1:n.536G>C
ENST00000684453.1:n.531G>C
ENST00000684621.1:n.537G>C
ENST00000265038.10:c.481G>C	ENSP00000265038.6:p.Val161Leu
ENST00000497892.6:c.*279G>C	ENSP00000501805.1:n.*279G>C
ENST00000643034.1:c.*373G>C	ENSP00000496080.1:n.*373G>C
ENST00000643708.1:c.*311G>C	ENSP00000494199.1:n.*311G>C
ENST00000647431.1:c.533G>C
ENST00000647486.1:c.432G>C
ENST00000675042.1:c.307G>C	ENSP00000502082.1:p.Val103Leu
ENST00000675229.1:c.481G>C	ENSP00000502154.1:p.Val161Leu
ENST00000675378.1:c.481G>C	ENSP00000502535.1:p.Val161Leu
ENST00000675452.1:n.730G>C
ENST00000675920.1:n.1089G>C
ENST00000676185.1:c.481G>C MANE Select	ENSP00000501614.1:p.Val161Leu
ENST00000265038.9:c.481G>C	ENSP00000265038.5:p.Val161Leu
ENST00000381118.7:c.*525G>C	ENSP00000370510.3:n.*525G>C
ENST00000439176.5:c.307G>C	ENSP00000408344.1:p.Val103Leu
ENST00000462279.5:n.326G>C
ENST00000484330.5:n.227-2284G>C
ENST00000495985.5:n.254G>C
ENST00000497892.5:n.524G>C
NM_000082.3:c.481G>C , LRG_466t1:c.481G>C	NP_000073.1:p.Val161Leu
NM_001007233.2:c.307G>C	NP_001007234.1:p.Val103Leu
NM_001007234.2:c.481G>C	NP_001007235.1:p.Val161Leu
NM_001290285.1:c.23-1076G>C	NP_001277214.1:n.23-1076G>C
NM_001007234.3:c.481G>C	NP_001007235.1:p.Val161Leu
NM_000082.4:c.481G>C MANE Select	NP_000073.1:p.Val161Leu
NM_001007233.3:c.307G>C	NP_001007234.1:p.Val103Leu
NM_001290285.2:c.23-1076G>C	NP_001277214.1:n.23-1076G>C