Canonical Allele Identifier: CA359827009

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60903718T>C , CM000667.2:g.60903718T>C	GRCh38
NC_000005.9:g.60199545T>C , CM000667.1:g.60199545T>C	GRCh37
NC_000005.8:g.60235302T>C	NCBI36
NG_009289.1:g.46361A>G , LRG_466:g.46361A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.482-2A>G MANE Select	NP_000073.1:n.482-2A>G
ENST00000676185.1:c.482-2A>G MANE Select	ENSP00000501614.1:n.482-2A>G
NM_000082.3:c.482-2A>G , LRG_466t1:c.482-2A>G	NP_000073.1:n.482-2A>G
NM_001007233.2:c.308-2A>G	NP_001007234.1:n.308-2A>G
NM_001007233.3:c.308-2A>G	NP_001007234.1:n.308-2A>G
NM_001007234.2:c.482-2A>G	NP_001007235.1:n.482-2A>G
NM_001007234.3:c.482-2A>G	NP_001007235.1:n.482-2A>G
NM_001290285.1:c.23-2A>G	NP_001277214.1:n.23-2A>G
NM_001290285.2:c.23-2A>G	NP_001277214.1:n.23-2A>G
ENST00000265038.10:c.482-2A>G	ENSP00000265038.6:n.482-2A>G
ENST00000265038.9:c.482-2A>G	ENSP00000265038.5:n.482-2A>G
ENST00000381118.7:c.*526-2A>G	ENSP00000370510.3:n.*526-2A>G
ENST00000439176.5:c.308-2A>G	ENSP00000408344.1:n.308-2A>G
ENST00000439176.6:c.482-2A>G	ENSP00000408344.2:n.482-2A>G
ENST00000462279.5:n.327-2A>G
ENST00000484330.5:n.227-1210A>G
ENST00000495985.5:n.259-2A>G
ENST00000497892.5:n.525-2A>G
ENST00000497892.6:c.*280-2A>G	ENSP00000501805.1:n.*280-2A>G
ENST00000643034.1:c.*374-2A>G	ENSP00000496080.1:n.*374-2A>G
ENST00000643708.1:c.*312-2A>G	ENSP00000494199.1:n.*312-2A>G
ENST00000647431.1:c.534-2A>G
ENST00000647431.2:c.583-2A>G	ENSP00000494726.2:n.583-2A>G
ENST00000647486.1:c.433-2A>G
ENST00000647486.2:c.482-2A>G	ENSP00000494466.2:n.482-2A>G
ENST00000675042.1:c.308-2A>G	ENSP00000502082.1:n.308-2A>G
ENST00000675042.2:c.308-2A>G	ENSP00000502082.2:n.308-2A>G
ENST00000675229.1:c.482-2A>G	ENSP00000502154.1:n.482-2A>G
ENST00000675378.1:c.482-2A>G	ENSP00000502535.1:n.482-2A>G
ENST00000675452.1:n.731-2A>G
ENST00000675452.2:c.*447-2A>G	ENSP00000506954.1:n.*447-2A>G
ENST00000675920.1:n.1090-2A>G
ENST00000682217.1:c.482-2A>G	ENSP00000507570.1:n.482-2A>G
ENST00000682246.1:n.538-2A>G
ENST00000682375.1:c.*312-2A>G	ENSP00000507551.1:n.*312-2A>G
ENST00000683052.1:c.284-2A>G	ENSP00000507072.1:n.284-2A>G
ENST00000683199.1:n.504-2A>G
ENST00000683216.1:n.751-2A>G
ENST00000683460.1:c.*312-2A>G	ENSP00000507820.1:n.*312-2A>G
ENST00000684394.1:n.537-2A>G
ENST00000684453.1:n.532-2A>G
ENST00000684621.1:n.538-2A>G