Canonical Allele Identifier: CA1549989121

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904840A= , CM000667.2:g.60904840A=	GRCh38
NC_000005.9:g.60200667A= , CM000667.1:g.60200667A=	GRCh37
NC_000005.8:g.60236424A=	NCBI36
NG_009289.1:g.45239T= , LRG_466:g.45239T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.433T=	ENSP00000408344.2:p.Tyr145=
ENST00000647431.2:c.534T=	ENSP00000494726.2:n.534T=
ENST00000647486.2:c.433T=	ENSP00000494466.2:p.Tyr145=
ENST00000675042.2:c.259T=	ENSP00000502082.2:p.Tyr87=
ENST00000675452.2:c.*398T=	ENSP00000506954.1:n.*398T=
ENST00000682217.1:c.433T=	ENSP00000507570.1:p.Tyr145=
ENST00000682246.1:n.489T=
ENST00000682375.1:c.*263T=	ENSP00000507551.1:n.*263T=
ENST00000683052.1:c.235T=	ENSP00000507072.1:p.Tyr79=
ENST00000683199.1:n.455T=
ENST00000683216.1:n.698T=
ENST00000683460.1:c.*263T=	ENSP00000507820.1:n.*263T=
ENST00000684394.1:n.488T=
ENST00000684453.1:n.483T=
ENST00000684621.1:n.489T=
ENST00000265038.10:c.433T=	ENSP00000265038.6:p.Tyr145=
ENST00000497892.6:c.*231T=	ENSP00000501805.1:n.*231T=
ENST00000643034.1:c.*325T=	ENSP00000496080.1:n.*325T=
ENST00000643708.1:c.*263T=	ENSP00000494199.1:n.*263T=
ENST00000647431.1:c.485T=
ENST00000647486.1:c.384T=
ENST00000675042.1:c.259T=	ENSP00000502082.1:p.Tyr87=
ENST00000675229.1:c.433T=	ENSP00000502154.1:p.Tyr145=
ENST00000675378.1:c.433T=	ENSP00000502535.1:p.Tyr145=
ENST00000675452.1:n.682T=
ENST00000675920.1:n.1041T=
ENST00000676185.1:c.433T= MANE Select	ENSP00000501614.1:p.Tyr145=
ENST00000265038.9:c.433T=	ENSP00000265038.5:p.Tyr145=
ENST00000381118.7:c.*477T=	ENSP00000370510.3:n.*477T=
ENST00000439176.5:c.259T=	ENSP00000408344.1:p.Tyr87=
ENST00000462279.5:n.278T=
ENST00000484330.5:n.227-2332T=
ENST00000495985.5:n.206T=
ENST00000497892.5:n.476T=
NM_000082.3:c.433T= , LRG_466t1:c.433T=	NP_000073.1:p.Tyr145=
NM_001007233.2:c.259T=	NP_001007234.1:p.Tyr87=
NM_001007234.2:c.433T=	NP_001007235.1:p.Tyr145=
NM_001290285.1:c.23-1124T=	NP_001277214.1:n.23-1124T=
NM_001007234.3:c.433T=	NP_001007235.1:p.Tyr145=
NM_000082.4:c.433T= MANE Select	NP_000073.1:p.Tyr145=
NM_001007233.3:c.259T=	NP_001007234.1:p.Tyr87=
NM_001290285.2:c.23-1124T=	NP_001277214.1:n.23-1124T=