Canonical Allele Identifier: CA444462607

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183285T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887458T>A , CM000667.2:g.60887458T>A	GRCh38
NC_000005.9:g.60183285T>A , CM000667.1:g.60183285T>A	GRCh37
NC_000005.8:g.60219042T>A	NCBI36
NG_009289.1:g.62621A>T , LRG_466:g.62621A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10818A>T	ENSP00000408344.2:n.855+10818A>T
ENST00000647431.2:c.1205A>T	ENSP00000494726.2:n.1205A>T
ENST00000675042.2:c.930A>T	ENSP00000502082.2:p.Pro310=
ENST00000675452.2:c.*1069A>T	ENSP00000506954.1:n.*1069A>T
ENST00000682217.1:c.906A>T	ENSP00000507570.1:p.Pro302=
ENST00000682375.1:c.*934A>T	ENSP00000507551.1:n.*934A>T
ENST00000683052.1:c.906A>T	ENSP00000507072.1:p.Pro302=
ENST00000683216.1:n.4741A>T
ENST00000683460.1:c.*2541A>T	ENSP00000507820.1:n.*2541A>T
ENST00000683688.1:n.2850A>T
ENST00000684621.1:n.962A>T
ENST00000265038.10:c.1161A>T	ENSP00000265038.6:p.Pro387=
ENST00000643034.1:c.*996A>T	ENSP00000496080.1:n.*996A>T
ENST00000643708.1:c.*934A>T	ENSP00000494199.1:n.*934A>T
ENST00000647431.1:c.1156A>T
ENST00000675378.1:c.*105A>T	ENSP00000502535.1:n.*105A>T
ENST00000675452.1:n.1353A>T
ENST00000676185.1:c.1104A>T MANE Select	ENSP00000501614.1:p.Pro368=
ENST00000265038.9:c.1104A>T	ENSP00000265038.5:p.Pro368=
ENST00000381118.7:c.*1148A>T	ENSP00000370510.3:n.*1148A>T
ENST00000462279.5:n.2556A>T
NM_000082.3:c.1104A>T , LRG_466t1:c.1104A>T	NP_000073.1:p.Pro368=
NM_001007233.2:c.930A>T	NP_001007234.1:p.Pro310=
NM_001290285.1:c.645A>T	NP_001277214.1:p.Pro215=
NM_000082.4:c.1104A>T MANE Select	NP_000073.1:p.Pro368=
NM_001007233.3:c.930A>T	NP_001007234.1:p.Pro310=
NM_001290285.2:c.645A>T	NP_001277214.1:p.Pro215=