Canonical Allele Identifier: CA118853669

Gene: ERCC8

Linked Data

• dbSNP Id: rs1037302131
• gnomAD v2: 5-60200647-T-G
• gnomAD v3: 5-60904820-T-G
• gnomAD v4: 5-60904820-T-G
• MyVariant Identifiers: chr5:g.60200647T>G (hg19) ; chr5:g.60904820T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904820T>G , CM000667.2:g.60904820T>G	GRCh38
NC_000005.9:g.60200647T>G , CM000667.1:g.60200647T>G	GRCh37
NC_000005.8:g.60236404T>G	NCBI36
NG_009289.1:g.45259A>C , LRG_466:g.45259A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.453A>C	ENSP00000408344.2:p.Pro151=
ENST00000647431.2:c.554A>C	ENSP00000494726.2:n.554A>C
ENST00000647486.2:c.453A>C	ENSP00000494466.2:p.Pro151=
ENST00000675042.2:c.279A>C	ENSP00000502082.2:p.Pro93=
ENST00000675452.2:c.*418A>C	ENSP00000506954.1:n.*418A>C
ENST00000682217.1:c.453A>C	ENSP00000507570.1:p.Pro151=
ENST00000682246.1:n.509A>C
ENST00000682375.1:c.*283A>C	ENSP00000507551.1:n.*283A>C
ENST00000683052.1:c.255A>C	ENSP00000507072.1:p.Pro85=
ENST00000683199.1:n.475A>C
ENST00000683216.1:n.718A>C
ENST00000683460.1:c.*283A>C	ENSP00000507820.1:n.*283A>C
ENST00000684394.1:n.508A>C
ENST00000684453.1:n.503A>C
ENST00000684621.1:n.509A>C
ENST00000265038.10:c.453A>C	ENSP00000265038.6:p.Pro151=
ENST00000497892.6:c.*251A>C	ENSP00000501805.1:n.*251A>C
ENST00000643034.1:c.*345A>C	ENSP00000496080.1:n.*345A>C
ENST00000643708.1:c.*283A>C	ENSP00000494199.1:n.*283A>C
ENST00000647431.1:c.505A>C
ENST00000647486.1:c.404A>C
ENST00000675042.1:c.279A>C	ENSP00000502082.1:p.Pro93=
ENST00000675229.1:c.453A>C	ENSP00000502154.1:p.Pro151=
ENST00000675378.1:c.453A>C	ENSP00000502535.1:p.Pro151=
ENST00000675452.1:n.702A>C
ENST00000675920.1:n.1061A>C
ENST00000676185.1:c.453A>C MANE Select	ENSP00000501614.1:p.Pro151=
ENST00000265038.9:c.453A>C	ENSP00000265038.5:p.Pro151=
ENST00000381118.7:c.*497A>C	ENSP00000370510.3:n.*497A>C
ENST00000439176.5:c.279A>C	ENSP00000408344.1:p.Pro93=
ENST00000462279.5:n.298A>C
ENST00000484330.5:n.227-2312A>C
ENST00000495985.5:n.226A>C
ENST00000497892.5:n.496A>C
NM_000082.3:c.453A>C , LRG_466t1:c.453A>C	NP_000073.1:p.Pro151=
NM_001007233.2:c.279A>C	NP_001007234.1:p.Pro93=
NM_001007234.2:c.453A>C	NP_001007235.1:p.Pro151=
NM_001290285.1:c.23-1104A>C	NP_001277214.1:n.23-1104A>C
NM_001007234.3:c.453A>C	NP_001007235.1:p.Pro151=
NM_000082.4:c.453A>C MANE Select	NP_000073.1:p.Pro151=
NM_001007233.3:c.279A>C	NP_001007234.1:p.Pro93=
NM_001290285.2:c.23-1104A>C	NP_001277214.1:n.23-1104A>C