Canonical Allele Identifier: CA359827285

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200660T>G (hg19) ; chr5:g.60904833T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904833T>G , CM000667.2:g.60904833T>G	GRCh38
NC_000005.9:g.60200660T>G , CM000667.1:g.60200660T>G	GRCh37
NC_000005.8:g.60236417T>G	NCBI36
NG_009289.1:g.45246A>C , LRG_466:g.45246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.440A>C	ENSP00000408344.2:p.His147Pro
ENST00000647431.2:c.541A>C	ENSP00000494726.2:n.541A>C
ENST00000647486.2:c.440A>C	ENSP00000494466.2:p.His147Pro
ENST00000675042.2:c.266A>C	ENSP00000502082.2:p.His89Pro
ENST00000675452.2:c.*405A>C	ENSP00000506954.1:n.*405A>C
ENST00000682217.1:c.440A>C	ENSP00000507570.1:p.His147Pro
ENST00000682246.1:n.496A>C
ENST00000682375.1:c.*270A>C	ENSP00000507551.1:n.*270A>C
ENST00000683052.1:c.242A>C	ENSP00000507072.1:p.His81Pro
ENST00000683199.1:n.462A>C
ENST00000683216.1:n.705A>C
ENST00000683460.1:c.*270A>C	ENSP00000507820.1:n.*270A>C
ENST00000684394.1:n.495A>C
ENST00000684453.1:n.490A>C
ENST00000684621.1:n.496A>C
ENST00000265038.10:c.440A>C	ENSP00000265038.6:p.His147Pro
ENST00000497892.6:c.*238A>C	ENSP00000501805.1:n.*238A>C
ENST00000643034.1:c.*332A>C	ENSP00000496080.1:n.*332A>C
ENST00000643708.1:c.*270A>C	ENSP00000494199.1:n.*270A>C
ENST00000647431.1:c.492A>C
ENST00000647486.1:c.391A>C
ENST00000675042.1:c.266A>C	ENSP00000502082.1:p.His89Pro
ENST00000675229.1:c.440A>C	ENSP00000502154.1:p.His147Pro
ENST00000675378.1:c.440A>C	ENSP00000502535.1:p.His147Pro
ENST00000675452.1:n.689A>C
ENST00000675920.1:n.1048A>C
ENST00000676185.1:c.440A>C MANE Select	ENSP00000501614.1:p.His147Pro
ENST00000265038.9:c.440A>C	ENSP00000265038.5:p.His147Pro
ENST00000381118.7:c.*484A>C	ENSP00000370510.3:n.*484A>C
ENST00000439176.5:c.266A>C	ENSP00000408344.1:p.His89Pro
ENST00000462279.5:n.285A>C
ENST00000484330.5:n.227-2325A>C
ENST00000495985.5:n.213A>C
ENST00000497892.5:n.483A>C
NM_000082.3:c.440A>C , LRG_466t1:c.440A>C	NP_000073.1:p.His147Pro
NM_001007233.2:c.266A>C	NP_001007234.1:p.His89Pro
NM_001007234.2:c.440A>C	NP_001007235.1:p.His147Pro
NM_001290285.1:c.23-1117A>C	NP_001277214.1:n.23-1117A>C
NM_001007234.3:c.440A>C	NP_001007235.1:p.His147Pro
NM_000082.4:c.440A>C MANE Select	NP_000073.1:p.His147Pro
NM_001007233.3:c.266A>C	NP_001007234.1:p.His89Pro
NM_001290285.2:c.23-1117A>C	NP_001277214.1:n.23-1117A>C