Canonical Allele Identifier: CA3277757
Community Standard Title: NM_000082.4(ERCC8):c.618-1G>A
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60899728C>T , CM000667.2:g.60899728C>T GRCh38
NC_000005.9:g.60195555C>T , CM000667.1:g.60195555C>T GRCh37
NC_000005.8:g.60231312C>T NCBI36
NG_009289.1:g.50351G>A , LRG_466:g.50351G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000082.4:c.618-1G>A MANE Select NP_000073.1:n.618-1G>A
ENST00000676185.1:c.618-1G>A MANE Select ENSP00000501614.1:n.618-1G>A
NM_000082.3:c.618-1G>A , LRG_466t1:c.618-1G>A NP_000073.1:n.618-1G>A
NM_001007233.2:c.444-1G>A NP_001007234.1:n.444-1G>A
NM_001007233.3:c.444-1G>A NP_001007234.1:n.444-1G>A
NM_001290285.1:c.159-1G>A NP_001277214.1:n.159-1G>A
NM_001290285.2:c.159-1G>A NP_001277214.1:n.159-1G>A
ENST00000265038.10:c.618-1G>A ENSP00000265038.6:n.618-1G>A
ENST00000265038.9:c.618-1G>A ENSP00000265038.5:n.618-1G>A
ENST00000381118.7:c.*662-1G>A ENSP00000370510.3:n.*662-1G>A
ENST00000439176.6:c.630-1G>A ENSP00000408344.2:n.630-1G>A
ENST00000462279.5:n.463-1G>A
ENST00000484330.5:n.294-1G>A
ENST00000495985.5:n.395-1G>A
ENST00000643034.1:c.*510-1G>A ENSP00000496080.1:n.*510-1G>A
ENST00000643708.1:c.*448-1G>A ENSP00000494199.1:n.*448-1G>A
ENST00000647431.1:c.670-1G>A
ENST00000647431.2:c.719-1G>A ENSP00000494726.2:n.719-1G>A
ENST00000647486.1:c.840-1G>A
ENST00000647486.2:c.889-1G>A ENSP00000494466.2:n.889-1G>A
ENST00000675042.2:c.444-1G>A ENSP00000502082.2:n.444-1G>A
ENST00000675378.1:c.618-1G>A ENSP00000502535.1:n.618-1G>A
ENST00000675452.1:n.867-1G>A
ENST00000675452.2:c.*583-1G>A ENSP00000506954.1:n.*583-1G>A
ENST00000682217.1:c.618-1G>A ENSP00000507570.1:n.618-1G>A
ENST00000682246.1:n.674-1G>A
ENST00000682375.1:c.*448-1G>A ENSP00000507551.1:n.*448-1G>A
ENST00000683052.1:c.420-1G>A ENSP00000507072.1:n.420-1G>A
ENST00000683199.1:n.640-1G>A
ENST00000683216.1:n.887-1G>A
ENST00000683460.1:c.*448-1G>A ENSP00000507820.1:n.*448-1G>A
ENST00000684394.1:n.673-1G>A
ENST00000684453.1:n.668-1G>A
ENST00000684621.1:n.674-1G>A