Canonical Allele Identifier: CA450862633
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2096282
ClinVar RCV Id: RCV003014098
gnomAD v4: 6-64590575-A-G
MyVariant Identifiers: chr6:g.65300468A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64590575A>G , CM000668.2:g.64590575A>G GRCh38
NC_000006.11:g.65300468A>G , CM000668.1:g.65300468A>G GRCh37
NC_000006.10:g.65357189A>G NCBI36
NG_023443.1:g.1121651T>C
NG_023443.2:g.1121651T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.5292T>C MANE Select ENSP00000424243.1:p.Ile1764=
ENST00000370616.6:c.5292T>C ENSP00000359650.2:p.Ile1764=
ENST00000370618.7:c.5292T>C ENSP00000359652.4:p.Ile1764=
ENST00000370621.7:c.5292T>C ENSP00000359655.3:p.Ile1764=
ENST00000503581.5:c.5292T>C ENSP00000424243.1:p.Ile1764=
NM_001142800.1:c.5292T>C NP_001136272.1:p.Ile1764=
NM_001292009.1:c.5292T>C NP_001278938.1:p.Ile1764=
NM_001142800.2:c.5292T>C MANE Select NP_001136272.1:p.Ile1764=
NM_001292009.2:c.5292T>C NP_001278938.1:p.Ile1764=