Canonical Allele Identifier: CA270056
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 143106
ClinVar RCV Id: RCV000132627
dbSNP Id: rs527236074
MyVariant Identifiers: chr6:g.65300746G>A (hg19) chr6:g.64590853G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64590853G>A , CM000668.2:g.64590853G>A GRCh38
NC_000006.11:g.65300746G>A , CM000668.1:g.65300746G>A GRCh37
NC_000006.10:g.65357467G>A NCBI36
NG_023443.1:g.1121373C>T
NG_023443.2:g.1121373C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000503581.6:c.5014C>T MANE Select ENSP00000424243.1:p.Gln1672Ter
ENST00000370616.6:c.5014C>T ENSP00000359650.2:p.Gln1672Ter
ENST00000370618.7:c.5014C>T ENSP00000359652.4:p.Gln1672Ter
ENST00000370621.7:c.5014C>T ENSP00000359655.3:p.Gln1672Ter
ENST00000503581.5:c.5014C>T ENSP00000424243.1:p.Gln1672Ter
NM_001142800.1:c.5014C>T NP_001136272.1:p.Gln1672Ter
NM_001292009.1:c.5014C>T NP_001278938.1:p.Gln1672Ter
NM_001142800.2:c.5014C>T MANE Select NP_001136272.1:p.Gln1672Ter
NM_001292009.2:c.5014C>T NP_001278938.1:p.Gln1672Ter
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