Canonical Allele Identifier: CA359822367

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183281G>C (hg19) ; chr5:g.60887454G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887454G>C , CM000667.2:g.60887454G>C	GRCh38
NC_000005.9:g.60183281G>C , CM000667.1:g.60183281G>C	GRCh37
NC_000005.8:g.60219038G>C	NCBI36
NG_009289.1:g.62625C>G , LRG_466:g.62625C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10822C>G	ENSP00000408344.2:n.855+10822C>G
ENST00000647431.2:c.1209C>G	ENSP00000494726.2:n.1209C>G
ENST00000675042.2:c.934C>G	ENSP00000502082.2:p.Pro312Ala
ENST00000675452.2:c.*1073C>G	ENSP00000506954.1:n.*1073C>G
ENST00000682217.1:c.910C>G	ENSP00000507570.1:p.Pro304Ala
ENST00000682375.1:c.*938C>G	ENSP00000507551.1:n.*938C>G
ENST00000683052.1:c.910C>G	ENSP00000507072.1:p.Pro304Ala
ENST00000683216.1:n.4745C>G
ENST00000683460.1:c.*2545C>G	ENSP00000507820.1:n.*2545C>G
ENST00000683688.1:n.2854C>G
ENST00000684621.1:n.966C>G
ENST00000265038.10:c.1165C>G	ENSP00000265038.6:p.Pro389Ala
ENST00000643034.1:c.*1000C>G	ENSP00000496080.1:n.*1000C>G
ENST00000643708.1:c.*938C>G	ENSP00000494199.1:n.*938C>G
ENST00000647431.1:c.1160C>G
ENST00000675378.1:c.*109C>G	ENSP00000502535.1:n.*109C>G
ENST00000675452.1:n.1357C>G
ENST00000676185.1:c.1108C>G MANE Select	ENSP00000501614.1:p.Pro370Ala
ENST00000265038.9:c.1108C>G	ENSP00000265038.5:p.Pro370Ala
ENST00000381118.7:c.*1152C>G	ENSP00000370510.3:n.*1152C>G
ENST00000462279.5:n.2560C>G
NM_000082.3:c.1108C>G , LRG_466t1:c.1108C>G	NP_000073.1:p.Pro370Ala
NM_001007233.2:c.934C>G	NP_001007234.1:p.Pro312Ala
NM_001290285.1:c.649C>G	NP_001277214.1:p.Pro217Ala
NM_000082.4:c.1108C>G MANE Select	NP_000073.1:p.Pro370Ala
NM_001007233.3:c.934C>G	NP_001007234.1:p.Pro312Ala
NM_001290285.2:c.649C>G	NP_001277214.1:p.Pro217Ala