Canonical Allele Identifier: CA444468313

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60200671T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904844T>A , CM000667.2:g.60904844T>A	GRCh38
NC_000005.9:g.60200671T>A , CM000667.1:g.60200671T>A	GRCh37
NC_000005.8:g.60236428T>A	NCBI36
NG_009289.1:g.45235A>T , LRG_466:g.45235A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.429A>T	ENSP00000408344.2:p.Thr143=
ENST00000647431.2:c.530A>T	ENSP00000494726.2:n.530A>T
ENST00000647486.2:c.429A>T	ENSP00000494466.2:p.Thr143=
ENST00000675042.2:c.255A>T	ENSP00000502082.2:p.Thr85=
ENST00000675452.2:c.*394A>T	ENSP00000506954.1:n.*394A>T
ENST00000682217.1:c.429A>T	ENSP00000507570.1:p.Thr143=
ENST00000682246.1:n.485A>T
ENST00000682375.1:c.*259A>T	ENSP00000507551.1:n.*259A>T
ENST00000683052.1:c.231A>T	ENSP00000507072.1:p.Thr77=
ENST00000683199.1:n.451A>T
ENST00000683216.1:n.694A>T
ENST00000683460.1:c.*259A>T	ENSP00000507820.1:n.*259A>T
ENST00000684394.1:n.484A>T
ENST00000684453.1:n.479A>T
ENST00000684621.1:n.485A>T
ENST00000265038.10:c.429A>T	ENSP00000265038.6:p.Thr143=
ENST00000497892.6:c.*227A>T	ENSP00000501805.1:n.*227A>T
ENST00000643034.1:c.*321A>T	ENSP00000496080.1:n.*321A>T
ENST00000643708.1:c.*259A>T	ENSP00000494199.1:n.*259A>T
ENST00000647431.1:c.481A>T
ENST00000647486.1:c.380A>T
ENST00000675042.1:c.255A>T	ENSP00000502082.1:p.Thr85=
ENST00000675229.1:c.429A>T	ENSP00000502154.1:p.Thr143=
ENST00000675378.1:c.429A>T	ENSP00000502535.1:p.Thr143=
ENST00000675452.1:n.678A>T
ENST00000675920.1:n.1037A>T
ENST00000676185.1:c.429A>T MANE Select	ENSP00000501614.1:p.Thr143=
ENST00000265038.9:c.429A>T	ENSP00000265038.5:p.Thr143=
ENST00000381118.7:c.*473A>T	ENSP00000370510.3:n.*473A>T
ENST00000439176.5:c.255A>T	ENSP00000408344.1:p.Thr85=
ENST00000462279.5:n.274A>T
ENST00000484330.5:n.227-2336A>T
ENST00000495985.5:n.202A>T
ENST00000497892.5:n.472A>T
NM_000082.3:c.429A>T , LRG_466t1:c.429A>T	NP_000073.1:p.Thr143=
NM_001007233.2:c.255A>T	NP_001007234.1:p.Thr85=
NM_001007234.2:c.429A>T	NP_001007235.1:p.Thr143=
NM_001290285.1:c.23-1128A>T	NP_001277214.1:n.23-1128A>T
NM_001007234.3:c.429A>T	NP_001007235.1:p.Thr143=
NM_000082.4:c.429A>T MANE Select	NP_000073.1:p.Thr143=
NM_001007233.3:c.255A>T	NP_001007234.1:p.Thr85=
NM_001290285.2:c.23-1128A>T	NP_001277214.1:n.23-1128A>T