Canonical Allele Identifier: CA3277663

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60890918C>T , CM000667.2:g.60890918C>T	GRCh38
NC_000005.9:g.60186745C>T , CM000667.1:g.60186745C>T	GRCh37
NC_000005.8:g.60222502C>T	NCBI36
NG_009289.1:g.59161G>A , LRG_466:g.59161G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.1012G>A MANE Select	NP_000073.1:p.Asp338Asn
ENST00000676185.1:c.1012G>A MANE Select	ENSP00000501614.1:p.Asp338Asn
NM_000082.3:c.1012G>A , LRG_466t1:c.1012G>A	NP_000073.1:p.Asp338Asn
NM_001007233.2:c.838G>A	NP_001007234.1:p.Asp280Asn
NM_001007233.3:c.838G>A	NP_001007234.1:p.Asp280Asn
NM_001290285.1:c.553G>A	NP_001277214.1:p.Asp185Asn
NM_001290285.2:c.553G>A	NP_001277214.1:p.Asp185Asn
ENST00000265038.10:c.1069G>A	ENSP00000265038.6:p.Asp357Asn
ENST00000265038.9:c.1012G>A	ENSP00000265038.5:p.Asp338Asn
ENST00000381118.7:c.*1056G>A	ENSP00000370510.3:n.*1056G>A
ENST00000439176.6:c.855+7358G>A	ENSP00000408344.2:n.855+7358G>A
ENST00000462279.5:n.2464G>A
ENST00000643034.1:c.*904G>A	ENSP00000496080.1:n.*904G>A
ENST00000643708.1:c.*842G>A	ENSP00000494199.1:n.*842G>A
ENST00000647431.1:c.1064G>A
ENST00000647431.2:c.1113G>A	ENSP00000494726.2:n.1113G>A
ENST00000647486.1:c.1234G>A
ENST00000647486.2:c.1283G>A	ENSP00000494466.2:n.1283G>A
ENST00000675042.2:c.838G>A	ENSP00000502082.2:p.Asp280Asn
ENST00000675378.1:c.1012G>A	ENSP00000502535.1:p.Asp338Asn
ENST00000675452.1:n.1261G>A
ENST00000675452.2:c.*977G>A	ENSP00000506954.1:n.*977G>A
ENST00000682217.1:c.844-3398G>A	ENSP00000507570.1:n.844-3398G>A
ENST00000682375.1:c.*842G>A	ENSP00000507551.1:n.*842G>A
ENST00000683052.1:c.814G>A	ENSP00000507072.1:p.Asp272Asn
ENST00000683199.1:n.1034G>A
ENST00000683216.1:n.1281G>A
ENST00000683460.1:c.*2449G>A	ENSP00000507820.1:n.*2449G>A
ENST00000684453.1:n.2669G>A
ENST00000684621.1:n.900-3398G>A