Canonical Allele Identifier: CA3876794
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 788537
ClinVar RCV Id: RCV000970984 RCV001160925
dbSNP Id: rs114512007
ExAC: 6:64498124 T / C
gnomAD v2: 6-64498124-T-C
gnomAD v3: 6-63788231-T-C
gnomAD v4: 6-63788231-T-C
MyVariant Identifiers: chr6:g.64498124T>C (hg19) chr6:g.63788231T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788231T>C , CM000668.2:g.63788231T>C GRCh38
NC_000006.11:g.64498124T>C , CM000668.1:g.64498124T>C GRCh37
NC_000006.10:g.64556083T>C NCBI36
NG_023443.1:g.1923995A>G
NG_023443.2:g.1923995A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7597A>G MANE Select ENSP00000424243.1:p.Lys2533Glu
ENST00000370616.6:c.7597A>G ENSP00000359650.2:p.Lys2533Glu
ENST00000370618.7:c.7597A>G ENSP00000359652.4:p.Lys2533Glu
ENST00000370621.7:c.7597A>G ENSP00000359655.3:p.Lys2533Glu
ENST00000398580.3:c.911A>G
ENST00000486069.1:n.237A>G
ENST00000503581.5:c.7597A>G ENSP00000424243.1:p.Lys2533Glu
NM_001142800.1:c.7597A>G NP_001136272.1:p.Lys2533Glu
NM_001292009.1:c.7597A>G NP_001278938.1:p.Lys2533Glu
NM_001142800.2:c.7597A>G MANE Select NP_001136272.1:p.Lys2533Glu
NM_001292009.2:c.7597A>G NP_001278938.1:p.Lys2533Glu
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