Canonical Allele Identifier: CA359823000

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60890888C>A , CM000667.2:g.60890888C>A	GRCh38
NC_000005.9:g.60186715C>A , CM000667.1:g.60186715C>A	GRCh37
NC_000005.8:g.60222472C>A	NCBI36
NG_009289.1:g.59191G>T , LRG_466:g.59191G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.1041+1G>T MANE Select	NP_000073.1:n.1041+1G>T
ENST00000676185.1:c.1041+1G>T MANE Select	ENSP00000501614.1:n.1041+1G>T
NM_000082.3:c.1041+1G>T , LRG_466t1:c.1041+1G>T	NP_000073.1:n.1041+1G>T
NM_001007233.2:c.867+1G>T	NP_001007234.1:n.867+1G>T
NM_001007233.3:c.867+1G>T	NP_001007234.1:n.867+1G>T
NM_001290285.1:c.582+1G>T	NP_001277214.1:n.582+1G>T
NM_001290285.2:c.582+1G>T	NP_001277214.1:n.582+1G>T
ENST00000265038.10:c.1098+1G>T	ENSP00000265038.6:n.1098+1G>T
ENST00000265038.9:c.1041+1G>T	ENSP00000265038.5:n.1041+1G>T
ENST00000381118.7:c.*1085+1G>T	ENSP00000370510.3:n.*1085+1G>T
ENST00000439176.6:c.855+7388G>T	ENSP00000408344.2:n.855+7388G>T
ENST00000462279.5:n.2493+1G>T
ENST00000643034.1:c.*933+1G>T	ENSP00000496080.1:n.*933+1G>T
ENST00000643708.1:c.*871+1G>T	ENSP00000494199.1:n.*871+1G>T
ENST00000647431.1:c.1093+1G>T
ENST00000647431.2:c.1142+1G>T	ENSP00000494726.2:n.1142+1G>T
ENST00000675042.2:c.867+1G>T	ENSP00000502082.2:n.867+1G>T
ENST00000675378.1:c.1041+1G>T	ENSP00000502535.1:n.1041+1G>T
ENST00000675452.1:n.1290+1G>T
ENST00000675452.2:c.*1006+1G>T	ENSP00000506954.1:n.*1006+1G>T
ENST00000682217.1:c.844-3368G>T	ENSP00000507570.1:n.844-3368G>T
ENST00000682375.1:c.*871+1G>T	ENSP00000507551.1:n.*871+1G>T
ENST00000683052.1:c.843+1G>T	ENSP00000507072.1:n.843+1G>T
ENST00000683199.1:n.1064G>T
ENST00000683216.1:n.1311G>T
ENST00000683460.1:c.*2478+1G>T	ENSP00000507820.1:n.*2478+1G>T
ENST00000684453.1:n.2699G>T
ENST00000684621.1:n.900-3368G>T