Canonical Allele Identifier: CA1549981533

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887476A= , CM000667.2:g.60887476A=	GRCh38
NC_000005.9:g.60183303A= , CM000667.1:g.60183303A=	GRCh37
NC_000005.8:g.60219060A=	NCBI36
NG_009289.1:g.62603T= , LRG_466:g.62603T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10800T=	ENSP00000408344.2:n.855+10800T=
ENST00000647431.2:c.1187T=	ENSP00000494726.2:n.1187T=
ENST00000675042.2:c.912T=	ENSP00000502082.2:p.Val304=
ENST00000675452.2:c.*1051T=	ENSP00000506954.1:n.*1051T=
ENST00000682217.1:c.888T=	ENSP00000507570.1:p.Val296=
ENST00000682375.1:c.*916T=	ENSP00000507551.1:n.*916T=
ENST00000683052.1:c.888T=	ENSP00000507072.1:p.Val296=
ENST00000683216.1:n.4723T=
ENST00000683460.1:c.*2523T=	ENSP00000507820.1:n.*2523T=
ENST00000683688.1:n.2832T=
ENST00000684621.1:n.944T=
ENST00000265038.10:c.1143T=	ENSP00000265038.6:p.Val381=
ENST00000643034.1:c.*978T=	ENSP00000496080.1:n.*978T=
ENST00000643708.1:c.*916T=	ENSP00000494199.1:n.*916T=
ENST00000647431.1:c.1138T=
ENST00000675378.1:c.*87T=	ENSP00000502535.1:n.*87T=
ENST00000675452.1:n.1335T=
ENST00000676185.1:c.1086T= MANE Select	ENSP00000501614.1:p.Val362=
ENST00000265038.9:c.1086T=	ENSP00000265038.5:p.Val362=
ENST00000381118.7:c.*1130T=	ENSP00000370510.3:n.*1130T=
ENST00000462279.5:n.2538T=
NM_000082.3:c.1086T= , LRG_466t1:c.1086T=	NP_000073.1:p.Val362=
NM_001007233.2:c.912T=	NP_001007234.1:p.Val304=
NM_001290285.1:c.627T=	NP_001277214.1:p.Val209=
NM_000082.4:c.1086T= MANE Select	NP_000073.1:p.Val362=
NM_001007233.3:c.912T=	NP_001007234.1:p.Val304=
NM_001290285.2:c.627T=	NP_001277214.1:p.Val209=