Canonical Allele Identifier: CA359822303

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60887445-C-T
• MyVariant Identifiers: chr5:g.60183272C>T (hg19) ; chr5:g.60887445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887445C>T , CM000667.2:g.60887445C>T	GRCh38
NC_000005.9:g.60183272C>T , CM000667.1:g.60183272C>T	GRCh37
NC_000005.8:g.60219029C>T	NCBI36
NG_009289.1:g.62634G>A , LRG_466:g.62634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10831G>A	ENSP00000408344.2:n.855+10831G>A
ENST00000647431.2:c.1218G>A	ENSP00000494726.2:n.1218G>A
ENST00000675042.2:c.943G>A	ENSP00000502082.2:p.Asp315Asn
ENST00000675452.2:c.*1082G>A	ENSP00000506954.1:n.*1082G>A
ENST00000682217.1:c.919G>A	ENSP00000507570.1:p.Asp307Asn
ENST00000682375.1:c.*947G>A	ENSP00000507551.1:n.*947G>A
ENST00000683052.1:c.919G>A	ENSP00000507072.1:p.Asp307Asn
ENST00000683216.1:n.4754G>A
ENST00000683460.1:c.*2554G>A	ENSP00000507820.1:n.*2554G>A
ENST00000683688.1:n.2863G>A
ENST00000684621.1:n.975G>A
ENST00000265038.10:c.1174G>A	ENSP00000265038.6:p.Asp392Asn
ENST00000643034.1:c.*1009G>A	ENSP00000496080.1:n.*1009G>A
ENST00000643708.1:c.*947G>A	ENSP00000494199.1:n.*947G>A
ENST00000647431.1:c.1169G>A
ENST00000675378.1:c.*118G>A	ENSP00000502535.1:n.*118G>A
ENST00000675452.1:n.1366G>A
ENST00000676185.1:c.1117G>A MANE Select	ENSP00000501614.1:p.Asp373Asn
ENST00000265038.9:c.1117G>A	ENSP00000265038.5:p.Asp373Asn
ENST00000381118.7:c.*1161G>A	ENSP00000370510.3:n.*1161G>A
ENST00000462279.5:n.2569G>A
NM_000082.3:c.1117G>A , LRG_466t1:c.1117G>A	NP_000073.1:p.Asp373Asn
NM_001007233.2:c.943G>A	NP_001007234.1:p.Asp315Asn
NM_001290285.1:c.658G>A	NP_001277214.1:p.Asp220Asn
NM_000082.4:c.1117G>A MANE Select	NP_000073.1:p.Asp373Asn
NM_001007233.3:c.943G>A	NP_001007234.1:p.Asp315Asn
NM_001290285.2:c.658G>A	NP_001277214.1:p.Asp220Asn