Canonical Allele Identifier: CA444468297

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904814-G-T
• MyVariant Identifiers: chr5:g.60200641G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904814G>T , CM000667.2:g.60904814G>T	GRCh38
NC_000005.9:g.60200641G>T , CM000667.1:g.60200641G>T	GRCh37
NC_000005.8:g.60236398G>T	NCBI36
NG_009289.1:g.45265C>A , LRG_466:g.45265C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.459C>A	ENSP00000408344.2:p.Ser153=
ENST00000647431.2:c.560C>A	ENSP00000494726.2:n.560C>A
ENST00000647486.2:c.459C>A	ENSP00000494466.2:p.Ser153=
ENST00000675042.2:c.285C>A	ENSP00000502082.2:p.Ser95=
ENST00000675452.2:c.*424C>A	ENSP00000506954.1:n.*424C>A
ENST00000682217.1:c.459C>A	ENSP00000507570.1:p.Ser153=
ENST00000682246.1:n.515C>A
ENST00000682375.1:c.*289C>A	ENSP00000507551.1:n.*289C>A
ENST00000683052.1:c.261C>A	ENSP00000507072.1:p.Ser87=
ENST00000683199.1:n.481C>A
ENST00000683216.1:n.724C>A
ENST00000683460.1:c.*289C>A	ENSP00000507820.1:n.*289C>A
ENST00000684394.1:n.514C>A
ENST00000684453.1:n.509C>A
ENST00000684621.1:n.515C>A
ENST00000265038.10:c.459C>A	ENSP00000265038.6:p.Ser153=
ENST00000497892.6:c.*257C>A	ENSP00000501805.1:n.*257C>A
ENST00000643034.1:c.*351C>A	ENSP00000496080.1:n.*351C>A
ENST00000643708.1:c.*289C>A	ENSP00000494199.1:n.*289C>A
ENST00000647431.1:c.511C>A
ENST00000647486.1:c.410C>A
ENST00000675042.1:c.285C>A	ENSP00000502082.1:p.Ser95=
ENST00000675229.1:c.459C>A	ENSP00000502154.1:p.Ser153=
ENST00000675378.1:c.459C>A	ENSP00000502535.1:p.Ser153=
ENST00000675452.1:n.708C>A
ENST00000675920.1:n.1067C>A
ENST00000676185.1:c.459C>A MANE Select	ENSP00000501614.1:p.Ser153=
ENST00000265038.9:c.459C>A	ENSP00000265038.5:p.Ser153=
ENST00000381118.7:c.*503C>A	ENSP00000370510.3:n.*503C>A
ENST00000439176.5:c.285C>A	ENSP00000408344.1:p.Ser95=
ENST00000462279.5:n.304C>A
ENST00000484330.5:n.227-2306C>A
ENST00000495985.5:n.232C>A
ENST00000497892.5:n.502C>A
NM_000082.3:c.459C>A , LRG_466t1:c.459C>A	NP_000073.1:p.Ser153=
NM_001007233.2:c.285C>A	NP_001007234.1:p.Ser95=
NM_001007234.2:c.459C>A	NP_001007235.1:p.Ser153=
NM_001290285.1:c.23-1098C>A	NP_001277214.1:n.23-1098C>A
NM_001007234.3:c.459C>A	NP_001007235.1:p.Ser153=
NM_000082.4:c.459C>A MANE Select	NP_000073.1:p.Ser153=
NM_001007233.3:c.285C>A	NP_001007234.1:p.Ser95=
NM_001290285.2:c.23-1098C>A	NP_001277214.1:n.23-1098C>A