Canonical Allele Identifier: CA359824973

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60898350C>G , CM000667.2:g.60898350C>G	GRCh38
NC_000005.9:g.60194177C>G , CM000667.1:g.60194177C>G	GRCh37
NC_000005.8:g.60229934C>G	NCBI36
NG_009289.1:g.51729G>C , LRG_466:g.51729G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.769G>C MANE Select	NP_000073.1:p.Gly257Arg
ENST00000676185.1:c.769G>C MANE Select	ENSP00000501614.1:p.Gly257Arg
NM_000082.3:c.769G>C , LRG_466t1:c.769G>C	NP_000073.1:p.Gly257Arg
NM_001007233.2:c.595G>C	NP_001007234.1:p.Gly199Arg
NM_001007233.3:c.595G>C	NP_001007234.1:p.Gly199Arg
NM_001290285.1:c.310G>C	NP_001277214.1:p.Gly104Arg
NM_001290285.2:c.310G>C	NP_001277214.1:p.Gly104Arg
ENST00000265038.10:c.769G>C	ENSP00000265038.6:p.Gly257Arg
ENST00000265038.9:c.769G>C	ENSP00000265038.5:p.Gly257Arg
ENST00000381118.7:c.*813G>C	ENSP00000370510.3:n.*813G>C
ENST00000439176.6:c.781G>C	ENSP00000408344.2:p.Gly261Arg
ENST00000462279.5:n.614G>C
ENST00000484330.5:n.445G>C
ENST00000495985.5:n.546G>C
ENST00000643034.1:c.*661G>C	ENSP00000496080.1:n.*661G>C
ENST00000643708.1:c.*599G>C	ENSP00000494199.1:n.*599G>C
ENST00000647431.1:c.821G>C
ENST00000647431.2:c.870G>C	ENSP00000494726.2:n.870G>C
ENST00000647486.1:c.991G>C
ENST00000647486.2:c.1040G>C	ENSP00000494466.2:n.1040G>C
ENST00000675042.2:c.595G>C	ENSP00000502082.2:p.Gly199Arg
ENST00000675378.1:c.769G>C	ENSP00000502535.1:p.Gly257Arg
ENST00000675452.1:n.1018G>C
ENST00000675452.2:c.*734G>C	ENSP00000506954.1:n.*734G>C
ENST00000682217.1:c.769G>C	ENSP00000507570.1:p.Gly257Arg
ENST00000682246.1:n.825G>C
ENST00000682375.1:c.*599G>C	ENSP00000507551.1:n.*599G>C
ENST00000683052.1:c.571G>C	ENSP00000507072.1:p.Gly191Arg
ENST00000683199.1:n.791G>C
ENST00000683216.1:n.1038G>C
ENST00000683460.1:c.*599G>C	ENSP00000507820.1:n.*599G>C
ENST00000684394.1:n.824G>C
ENST00000684453.1:n.819G>C
ENST00000684621.1:n.825G>C