Canonical Allele Identifier: CA202471
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 137257
ClinVar RCV Id: RCV000177451 RCV000882506 RCV001003019 RCV001292621
dbSNP Id: rs201580493
ExAC: 6:65016935 A / T
gnomAD v2: 6-65016935-A-T
gnomAD v3: 6-64307042-A-T
gnomAD v4: 6-64307042-A-T
MyVariant Identifiers: chr6:g.65016935A>T (hg19) chr6:g.64307042A>T (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64307042A>T , CM000668.2:g.64307042A>T GRCh38
NC_000006.11:g.65016935A>T , CM000668.1:g.65016935A>T GRCh37
NC_000006.10:g.65074894A>T NCBI36
NG_023443.1:g.1405184T>A
NG_023443.2:g.1405184T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000503581.6:c.6119T>A MANE Select ENSP00000424243.1:p.Val2040Asp
ENST00000370616.6:c.6119T>A ENSP00000359650.2:p.Val2040Asp
ENST00000370618.7:c.6119T>A ENSP00000359652.4:p.Val2040Asp
ENST00000370621.7:c.6119T>A ENSP00000359655.3:p.Val2040Asp
ENST00000503581.5:c.6119T>A ENSP00000424243.1:p.Val2040Asp
NM_001142800.1:c.6119T>A NP_001136272.1:p.Val2040Asp
NM_001292009.1:c.6119T>A NP_001278938.1:p.Val2040Asp
NM_001142800.2:c.6119T>A MANE Select NP_001136272.1:p.Val2040Asp
NM_001292009.2:c.6119T>A NP_001278938.1:p.Val2040Asp
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