Canonical Allele Identifier: CA364391567
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64230787C>T
GRCh37 chr6:g.64940680C>T
Revel Score:
ENST00000503581 (MANE Select) 0.142
ENST00000370621 0.142
ENST00000370616 0.142
gnomAD v2:
6:64940680 C / T
gnomAD v3:
6:64230787 C / T
gnomAD v4:
chr6-64230787-C-T
Joint Max Group AF 0.00015702 (SAS)
Genomes Max Group AF 0.00007287 (SAS)
Exomes Max Group AF 0.00014665 (SAS)
ClinVar RCV:
RCV000595158
ClinVar Variation:
498880
dbSNP:
1214579712
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230787C>T , CM000668.2:g.64230787C>T GRCh38
NC_000006.11:g.64940680C>T , CM000668.1:g.64940680C>T GRCh37
NC_000006.10:g.64998639C>T NCBI36
NG_023443.1:g.1481439G>A
NG_023443.2:g.1481439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6229G>A MANE Select ENSP00000424243.1:p.Val2077Ile
ENST00000370616.6:c.6229G>A ENSP00000359650.2:p.Val2077Ile
ENST00000370618.7:c.6229G>A ENSP00000359652.4:p.Val2077Ile
ENST00000370621.7:c.6229G>A ENSP00000359655.3:p.Val2077Ile
ENST00000503581.5:c.6229G>A ENSP00000424243.1:p.Val2077Ile
NM_001142800.1:c.6229G>A NP_001136272.1:p.Val2077Ile
NM_001292009.1:c.6229G>A NP_001278938.1:p.Val2077Ile
NM_001142800.2:c.6229G>A MANE Select NP_001136272.1:p.Val2077Ile
NM_001292009.2:c.6229G>A NP_001278938.1:p.Val2077Ile
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