Canonical Allele Identifier: CA450758901
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1155222
ClinVar RCV Id: RCV001497437
dbSNP Id: rs1475370698
gnomAD v2: 6-64940708-T-C
gnomAD v3: 6-64230815-T-C
gnomAD v4: 6-64230815-T-C
MyVariant Identifiers: chr6:g.64940708T>C (hg19) chr6:g.64230815T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230815T>C , CM000668.2:g.64230815T>C GRCh38
NC_000006.11:g.64940708T>C , CM000668.1:g.64940708T>C GRCh37
NC_000006.10:g.64998667T>C NCBI36
NG_023443.1:g.1481411A>G
NG_023443.2:g.1481411A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6201A>G MANE Select ENSP00000424243.1:p.Gly2067=
ENST00000370616.6:c.6201A>G ENSP00000359650.2:p.Gly2067=
ENST00000370618.7:c.6201A>G ENSP00000359652.4:p.Gly2067=
ENST00000370621.7:c.6201A>G ENSP00000359655.3:p.Gly2067=
ENST00000503581.5:c.6201A>G ENSP00000424243.1:p.Gly2067=
NM_001142800.1:c.6201A>G NP_001136272.1:p.Gly2067=
NM_001292009.1:c.6201A>G NP_001278938.1:p.Gly2067=
NM_001142800.2:c.6201A>G MANE Select NP_001136272.1:p.Gly2067=
NM_001292009.2:c.6201A>G NP_001278938.1:p.Gly2067=
Search 100 bp 5'
Search 100 bp 3'