Canonical Allele Identifier: CA359828306

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60922147G>C , CM000667.2:g.60922147G>C	GRCh38
NC_000005.9:g.60217974G>C , CM000667.1:g.60217974G>C	GRCh37
NC_000005.8:g.60253731G>C	NCBI36
NG_009289.1:g.27932C>G , LRG_466:g.27932C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.182C>G MANE Select	NP_000073.1:p.Ser61Ter
ENST00000676185.1:c.182C>G MANE Select	ENSP00000501614.1:p.Ser61Ter
NM_000082.3:c.182C>G , LRG_466t1:c.182C>G	NP_000073.1:p.Ser61Ter
NM_001007233.2:c.8C>G	NP_001007234.1:p.Ser3Ter
NM_001007233.3:c.8C>G	NP_001007234.1:p.Ser3Ter
NM_001007234.2:c.182C>G	NP_001007235.1:p.Ser61Ter
NM_001007234.3:c.182C>G	NP_001007235.1:p.Ser61Ter
NM_001290285.1:c.-196C>G	NP_001277214.1:n.-196C>G
NM_001290285.2:c.-196C>G	NP_001277214.1:n.-196C>G
ENST00000265038.10:c.182C>G	ENSP00000265038.6:p.Ser61Ter
ENST00000265038.9:c.182C>G	ENSP00000265038.5:p.Ser61Ter
ENST00000381118.7:c.*226C>G	ENSP00000370510.3:n.*226C>G
ENST00000439176.5:c.8C>G	ENSP00000408344.1:p.Ser3Ter
ENST00000439176.6:c.182C>G	ENSP00000408344.2:p.Ser61Ter
ENST00000477893.1:n.233C>G
ENST00000497892.5:n.225C>G
ENST00000497892.6:c.259C>G	ENSP00000501805.1:p.Gln87Glu
ENST00000643034.1:c.*74C>G	ENSP00000496080.1:n.*74C>G
ENST00000643708.1:c.182C>G	ENSP00000494199.1:p.Ser61Ter
ENST00000647431.1:c.133C>G
ENST00000647431.2:c.182C>G	ENSP00000494726.2:p.Ser61Ter
ENST00000647486.1:c.133C>G
ENST00000647486.2:c.182C>G	ENSP00000494466.2:p.Ser61Ter
ENST00000675042.1:c.8C>G	ENSP00000502082.1:p.Ser3Ter
ENST00000675042.2:c.8C>G	ENSP00000502082.2:p.Ser3Ter
ENST00000675229.1:c.182C>G	ENSP00000502154.1:p.Ser61Ter
ENST00000675378.1:c.182C>G	ENSP00000502535.1:p.Ser61Ter
ENST00000675452.1:n.121C>G
ENST00000675452.2:c.*147C>G	ENSP00000506954.1:n.*147C>G
ENST00000675920.1:n.790C>G
ENST00000682217.1:c.182C>G	ENSP00000507570.1:p.Ser61Ter
ENST00000682246.1:n.238C>G
ENST00000682375.1:c.8C>G	ENSP00000507551.1:p.Ser3Ter
ENST00000682380.1:n.315C>G
ENST00000682418.1:n.238C>G
ENST00000682750.1:n.126C>G
ENST00000683052.1:c.78-3759C>G	ENSP00000507072.1:n.78-3759C>G
ENST00000683199.1:n.204C>G
ENST00000683460.1:c.182C>G	ENSP00000507820.1:p.Ser61Ter
ENST00000684394.1:n.237C>G
ENST00000684453.1:n.232C>G
ENST00000684621.1:n.238C>G