Canonical Allele Identifier: CA3876928
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64230693C>T
GRCh37 chr6:g.64940586C>T
Revel Score:
ENST00000503581 (MANE Select) 0.800
ENST00000370621 0.800
ENST00000370616 0.800
gnomAD v2:
6:64940586 C / T
gnomAD v3:
6:64230693 C / T
gnomAD v4:
chr6-64230693-C-T
Joint Max Group AF 0.00003604 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.00003268 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230693C>T , CM000668.2:g.64230693C>T GRCh38
NC_000006.11:g.64940586C>T , CM000668.1:g.64940586C>T GRCh37
NC_000006.10:g.64998545C>T NCBI36
NG_023443.1:g.1481533G>A
NG_023443.2:g.1481533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6323G>A MANE Select ENSP00000424243.1:p.Cys2108Tyr
ENST00000370616.6:c.6323G>A ENSP00000359650.2:p.Cys2108Tyr
ENST00000370618.7:c.6323G>A ENSP00000359652.4:p.Cys2108Tyr
ENST00000370621.7:c.6323G>A ENSP00000359655.3:p.Cys2108Tyr
ENST00000503581.5:c.6323G>A ENSP00000424243.1:p.Cys2108Tyr
NM_001142800.1:c.6323G>A NP_001136272.1:p.Cys2108Tyr
NM_001292009.1:c.6323G>A NP_001278938.1:p.Cys2108Tyr
NM_001142800.2:c.6323G>A MANE Select NP_001136272.1:p.Cys2108Tyr
NM_001292009.2:c.6323G>A NP_001278938.1:p.Cys2108Tyr
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