Canonical Allele Identifier: CA359822378

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60887456-A-G
• MyVariant Identifiers: chr5:g.60183283A>G (hg19) ; chr5:g.60887456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887456A>G , CM000667.2:g.60887456A>G	GRCh38
NC_000005.9:g.60183283A>G , CM000667.1:g.60183283A>G	GRCh37
NC_000005.8:g.60219040A>G	NCBI36
NG_009289.1:g.62623T>C , LRG_466:g.62623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10820T>C	ENSP00000408344.2:n.855+10820T>C
ENST00000647431.2:c.1207T>C	ENSP00000494726.2:n.1207T>C
ENST00000675042.2:c.932T>C	ENSP00000502082.2:p.Val311Ala
ENST00000675452.2:c.*1071T>C	ENSP00000506954.1:n.*1071T>C
ENST00000682217.1:c.908T>C	ENSP00000507570.1:p.Val303Ala
ENST00000682375.1:c.*936T>C	ENSP00000507551.1:n.*936T>C
ENST00000683052.1:c.908T>C	ENSP00000507072.1:p.Val303Ala
ENST00000683216.1:n.4743T>C
ENST00000683460.1:c.*2543T>C	ENSP00000507820.1:n.*2543T>C
ENST00000683688.1:n.2852T>C
ENST00000684621.1:n.964T>C
ENST00000265038.10:c.1163T>C	ENSP00000265038.6:p.Val388Ala
ENST00000643034.1:c.*998T>C	ENSP00000496080.1:n.*998T>C
ENST00000643708.1:c.*936T>C	ENSP00000494199.1:n.*936T>C
ENST00000647431.1:c.1158T>C
ENST00000675378.1:c.*107T>C	ENSP00000502535.1:n.*107T>C
ENST00000675452.1:n.1355T>C
ENST00000676185.1:c.1106T>C MANE Select	ENSP00000501614.1:p.Val369Ala
ENST00000265038.9:c.1106T>C	ENSP00000265038.5:p.Val369Ala
ENST00000381118.7:c.*1150T>C	ENSP00000370510.3:n.*1150T>C
ENST00000462279.5:n.2558T>C
NM_000082.3:c.1106T>C , LRG_466t1:c.1106T>C	NP_000073.1:p.Val369Ala
NM_001007233.2:c.932T>C	NP_001007234.1:p.Val311Ala
NM_001290285.1:c.647T>C	NP_001277214.1:p.Val216Ala
NM_000082.4:c.1106T>C MANE Select	NP_000073.1:p.Val369Ala
NM_001007233.3:c.932T>C	NP_001007234.1:p.Val311Ala
NM_001290285.2:c.647T>C	NP_001277214.1:p.Val216Ala