Canonical Allele Identifier: CA359828265

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60922127T>A , CM000667.2:g.60922127T>A	GRCh38
NC_000005.9:g.60217954T>A , CM000667.1:g.60217954T>A	GRCh37
NC_000005.8:g.60253711T>A	NCBI36
NG_009289.1:g.27952A>T , LRG_466:g.27952A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.202A>T MANE Select	NP_000073.1:p.Ile68Phe
ENST00000676185.1:c.202A>T MANE Select	ENSP00000501614.1:p.Ile68Phe
NM_000082.3:c.202A>T , LRG_466t1:c.202A>T	NP_000073.1:p.Ile68Phe
NM_001007233.2:c.28A>T	NP_001007234.1:p.Ile10Phe
NM_001007233.3:c.28A>T	NP_001007234.1:p.Ile10Phe
NM_001007234.2:c.202A>T	NP_001007235.1:p.Ile68Phe
NM_001007234.3:c.202A>T	NP_001007235.1:p.Ile68Phe
NM_001290285.1:c.-176A>T	NP_001277214.1:n.-176A>T
NM_001290285.2:c.-176A>T	NP_001277214.1:n.-176A>T
ENST00000265038.10:c.202A>T	ENSP00000265038.6:p.Ile68Phe
ENST00000265038.9:c.202A>T	ENSP00000265038.5:p.Ile68Phe
ENST00000381118.7:c.*246A>T	ENSP00000370510.3:n.*246A>T
ENST00000439176.5:c.28A>T	ENSP00000408344.1:p.Ile10Phe
ENST00000439176.6:c.202A>T	ENSP00000408344.2:p.Ile68Phe
ENST00000477893.1:n.253A>T
ENST00000497892.5:n.245A>T
ENST00000497892.6:c.279A>T	ENSP00000501805.1:p.Ter93Cys
ENST00000643034.1:c.*94A>T	ENSP00000496080.1:n.*94A>T
ENST00000643708.1:c.202A>T	ENSP00000494199.1:p.Ile68Phe
ENST00000647431.1:c.153A>T
ENST00000647431.2:c.202A>T	ENSP00000494726.2:p.Ile68Phe
ENST00000647486.1:c.153A>T
ENST00000647486.2:c.202A>T	ENSP00000494466.2:p.Ile68Phe
ENST00000675042.1:c.28A>T	ENSP00000502082.1:p.Ile10Phe
ENST00000675042.2:c.28A>T	ENSP00000502082.2:p.Ile10Phe
ENST00000675229.1:c.202A>T	ENSP00000502154.1:p.Ile68Phe
ENST00000675378.1:c.202A>T	ENSP00000502535.1:p.Ile68Phe
ENST00000675452.1:n.141A>T
ENST00000675452.2:c.*167A>T	ENSP00000506954.1:n.*167A>T
ENST00000675920.1:n.810A>T
ENST00000682217.1:c.202A>T	ENSP00000507570.1:p.Ile68Phe
ENST00000682246.1:n.258A>T
ENST00000682375.1:c.28A>T	ENSP00000507551.1:p.Ile10Phe
ENST00000682380.1:n.335A>T
ENST00000682418.1:n.258A>T
ENST00000682750.1:n.146A>T
ENST00000683052.1:c.78-3739A>T	ENSP00000507072.1:n.78-3739A>T
ENST00000683199.1:n.224A>T
ENST00000683460.1:c.202A>T	ENSP00000507820.1:p.Ile68Phe
ENST00000684394.1:n.257A>T
ENST00000684453.1:n.252A>T
ENST00000684621.1:n.258A>T