Canonical Allele Identifier: CA359824919

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60898322T>G , CM000667.2:g.60898322T>G	GRCh38
NC_000005.9:g.60194149T>G , CM000667.1:g.60194149T>G	GRCh37
NC_000005.8:g.60229906T>G	NCBI36
NG_009289.1:g.51757A>C , LRG_466:g.51757A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.797A>C MANE Select	NP_000073.1:p.Asp266Ala
ENST00000676185.1:c.797A>C MANE Select	ENSP00000501614.1:p.Asp266Ala
NM_000082.3:c.797A>C , LRG_466t1:c.797A>C	NP_000073.1:p.Asp266Ala
NM_001007233.2:c.623A>C	NP_001007234.1:p.Asp208Ala
NM_001007233.3:c.623A>C	NP_001007234.1:p.Asp208Ala
NM_001290285.1:c.338A>C	NP_001277214.1:p.Asp113Ala
NM_001290285.2:c.338A>C	NP_001277214.1:p.Asp113Ala
ENST00000265038.10:c.797A>C	ENSP00000265038.6:p.Asp266Ala
ENST00000265038.9:c.797A>C	ENSP00000265038.5:p.Asp266Ala
ENST00000381118.7:c.*841A>C	ENSP00000370510.3:n.*841A>C
ENST00000439176.6:c.809A>C	ENSP00000408344.2:p.Asp270Ala
ENST00000462279.5:n.642A>C
ENST00000495985.5:n.574A>C
ENST00000643034.1:c.*689A>C	ENSP00000496080.1:n.*689A>C
ENST00000643708.1:c.*627A>C	ENSP00000494199.1:n.*627A>C
ENST00000647431.1:c.849A>C
ENST00000647431.2:c.898A>C	ENSP00000494726.2:n.898A>C
ENST00000647486.1:c.1019A>C
ENST00000647486.2:c.1068A>C	ENSP00000494466.2:n.1068A>C
ENST00000675042.2:c.623A>C	ENSP00000502082.2:p.Asp208Ala
ENST00000675378.1:c.797A>C	ENSP00000502535.1:p.Asp266Ala
ENST00000675452.1:n.1046A>C
ENST00000675452.2:c.*762A>C	ENSP00000506954.1:n.*762A>C
ENST00000682217.1:c.797A>C	ENSP00000507570.1:p.Asp266Ala
ENST00000682246.1:n.853A>C
ENST00000682375.1:c.*627A>C	ENSP00000507551.1:n.*627A>C
ENST00000683052.1:c.599A>C	ENSP00000507072.1:p.Asp200Ala
ENST00000683199.1:n.819A>C
ENST00000683216.1:n.1066A>C
ENST00000683460.1:c.*627A>C	ENSP00000507820.1:n.*627A>C
ENST00000684394.1:n.852A>C
ENST00000684453.1:n.847A>C
ENST00000684621.1:n.853A>C