Canonical Allele Identifier: CA359828103

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60922053C>A , CM000667.2:g.60922053C>A	GRCh38
NC_000005.9:g.60217880C>A , CM000667.1:g.60217880C>A	GRCh37
NC_000005.8:g.60253637C>A	NCBI36
NG_009289.1:g.28026G>T , LRG_466:g.28026G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.275+1G>T MANE Select	NP_000073.1:n.275+1G>T
ENST00000676185.1:c.275+1G>T MANE Select	ENSP00000501614.1:n.275+1G>T
NM_000082.3:c.275+1G>T , LRG_466t1:c.275+1G>T	NP_000073.1:n.275+1G>T
NM_001007233.2:c.101+1G>T	NP_001007234.1:n.101+1G>T
NM_001007233.3:c.101+1G>T	NP_001007234.1:n.101+1G>T
NM_001007234.2:c.275+1G>T	NP_001007235.1:n.275+1G>T
NM_001007234.3:c.275+1G>T	NP_001007235.1:n.275+1G>T
NM_001290285.1:c.-103+1G>T	NP_001277214.1:n.-103+1G>T
NM_001290285.2:c.-103+1G>T	NP_001277214.1:n.-103+1G>T
ENST00000265038.10:c.275+1G>T	ENSP00000265038.6:n.275+1G>T
ENST00000265038.9:c.275+1G>T	ENSP00000265038.5:n.275+1G>T
ENST00000381118.7:c.*319+1G>T	ENSP00000370510.3:n.*319+1G>T
ENST00000439176.5:c.101+1G>T	ENSP00000408344.1:n.101+1G>T
ENST00000439176.6:c.275+1G>T	ENSP00000408344.2:n.275+1G>T
ENST00000477893.1:n.326+1G>T
ENST00000497892.5:n.318+1G>T
ENST00000497892.6:c.*73+1G>T	ENSP00000501805.1:n.*73+1G>T
ENST00000643034.1:c.*167+1G>T	ENSP00000496080.1:n.*167+1G>T
ENST00000643708.1:c.275+1G>T	ENSP00000494199.1:n.275+1G>T
ENST00000647431.1:c.226+1G>T
ENST00000647431.2:c.275+1G>T	ENSP00000494726.2:n.275+1G>T
ENST00000647486.1:c.226+1G>T
ENST00000647486.2:c.275+1G>T	ENSP00000494466.2:n.275+1G>T
ENST00000675042.1:c.101+1G>T	ENSP00000502082.1:n.101+1G>T
ENST00000675042.2:c.101+1G>T	ENSP00000502082.2:n.101+1G>T
ENST00000675229.1:c.275+1G>T	ENSP00000502154.1:n.275+1G>T
ENST00000675378.1:c.275+1G>T	ENSP00000502535.1:n.275+1G>T
ENST00000675452.1:n.214+1G>T
ENST00000675452.2:c.*240+1G>T	ENSP00000506954.1:n.*240+1G>T
ENST00000675920.1:n.883+1G>T
ENST00000682217.1:c.275+1G>T	ENSP00000507570.1:n.275+1G>T
ENST00000682246.1:n.331+1G>T
ENST00000682375.1:c.101+1G>T	ENSP00000507551.1:n.101+1G>T
ENST00000682380.1:n.408+1G>T
ENST00000682418.1:n.331+1G>T
ENST00000682750.1:n.219+1G>T
ENST00000683052.1:c.78-3665G>T	ENSP00000507072.1:n.78-3665G>T
ENST00000683199.1:n.297+1G>T
ENST00000683460.1:c.275+1G>T	ENSP00000507820.1:n.275+1G>T
ENST00000684394.1:n.330+1G>T
ENST00000684453.1:n.325+1G>T
ENST00000684621.1:n.331+1G>T