Canonical Allele Identifier: CA559821712

Gene: ERCC8

Linked Data

• dbSNP Id: rs902101288
• gnomAD v2: 5-60223601-C-G
• gnomAD v3: 5-60927774-C-G
• gnomAD v4: 5-60927774-C-G
• MyVariant Identifiers: chr5:g.60223601C>G (hg19) ; chr5:g.60927774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60927774C>G , CM000667.2:g.60927774C>G	GRCh38
NC_000005.9:g.60223601C>G , CM000667.1:g.60223601C>G	GRCh37
NC_000005.8:g.60259358C>G	NCBI36
NG_009289.1:g.22305G>C , LRG_466:g.22305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.173+1090G>C	ENSP00000408344.2:n.173+1090G>C
ENST00000647431.2:c.173+1090G>C	ENSP00000494726.2:n.173+1090G>C
ENST00000647486.2:c.173+1090G>C	ENSP00000494466.2:n.173+1090G>C
ENST00000675042.2:c.-2+1090G>C	ENSP00000502082.2:n.-2+1090G>C
ENST00000675452.2:c.173+1090G>C	ENSP00000506954.1:n.173+1090G>C
ENST00000682041.1:n.1313G>C
ENST00000682217.1:c.173+1090G>C	ENSP00000507570.1:n.173+1090G>C
ENST00000682246.1:n.229+1090G>C
ENST00000682375.1:c.-2+1090G>C	ENSP00000507551.1:n.-2+1090G>C
ENST00000682380.1:n.229+1090G>C
ENST00000682418.1:n.229+1090G>C
ENST00000682874.1:n.337G>C
ENST00000683052.1:c.78-9386G>C	ENSP00000507072.1:n.78-9386G>C
ENST00000683199.1:n.195+1090G>C
ENST00000683460.1:c.173+1090G>C	ENSP00000507820.1:n.173+1090G>C
ENST00000684394.1:n.228+1090G>C
ENST00000684453.1:n.223+1090G>C
ENST00000684621.1:n.229+1090G>C
ENST00000265038.10:c.173+1090G>C	ENSP00000265038.6:n.173+1090G>C
ENST00000497892.6:c.173+1090G>C	ENSP00000501805.1:n.173+1090G>C
ENST00000643034.1:c.173+1090G>C	ENSP00000496080.1:n.173+1090G>C
ENST00000643708.1:c.173+1090G>C	ENSP00000494199.1:n.173+1090G>C
ENST00000647431.1:c.124+1090G>C
ENST00000647486.1:c.124+1090G>C
ENST00000675042.1:c.-2+1090G>C	ENSP00000502082.1:n.-2+1090G>C
ENST00000675229.1:c.173+1090G>C	ENSP00000502154.1:n.173+1090G>C
ENST00000675378.1:c.173+1090G>C	ENSP00000502535.1:n.173+1090G>C
ENST00000675920.1:n.300G>C
ENST00000676185.1:c.173+1090G>C MANE Select	ENSP00000501614.1:n.173+1090G>C
ENST00000265038.9:c.173+1090G>C	ENSP00000265038.5:n.173+1090G>C
ENST00000381118.7:c.173+1090G>C	ENSP00000370510.3:n.173+1090G>C
ENST00000439176.5:c.-2+1090G>C	ENSP00000408344.1:n.-2+1090G>C
ENST00000477893.1:n.224+1090G>C
ENST00000497892.5:n.216+1090G>C
NM_000082.3:c.173+1090G>C , LRG_466t1:c.173+1090G>C	NP_000073.1:n.173+1090G>C
NM_001007233.2:c.-220+1090G>C	NP_001007234.1:n.-220+1090G>C
NM_001007234.2:c.173+1090G>C	NP_001007235.1:n.173+1090G>C
NM_001290285.1:c.-205+1090G>C	NP_001277214.1:n.-205+1090G>C
NM_001007234.3:c.173+1090G>C	NP_001007235.1:n.173+1090G>C
NM_000082.4:c.173+1090G>C MANE Select	NP_000073.1:n.173+1090G>C
NM_001007233.3:c.-220+1090G>C	NP_001007234.1:n.-220+1090G>C
NM_001290285.2:c.-205+1090G>C	NP_001277214.1:n.-205+1090G>C