Canonical Allele Identifier: CA3877631
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.65334996C>T
GRCh37 chr6:g.66044889C>T
Revel Score:
ENST00000503581 (MANE Select) 0.199
ENST00000370621 0.199
ENST00000370616 0.199
ENST00000393380 0.199
ENST00000342421 0.199
ENST00000370618 0.199
gnomAD v2:
6:66044889 C / T
gnomAD v4:
chr6-65334996-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV001339520
RCV001831056
ClinVar Variation:
1036494
dbSNP:
527236072
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65334996C>T , CM000668.2:g.65334996C>T GRCh38
NC_000006.11:g.66044889C>T , CM000668.1:g.66044889C>T GRCh37
NC_000006.10:g.66101610C>T NCBI36
NG_023443.1:g.377230G>A
NG_023443.2:g.377230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.1750G>A MANE Select ENSP00000424243.1:p.Glu584Lys
ENST00000342421.9:c.1750G>A ENSP00000341818.5:p.Glu584Lys
ENST00000370616.6:c.1750G>A ENSP00000359650.2:p.Glu584Lys
ENST00000370618.7:c.1750G>A ENSP00000359652.4:p.Glu584Lys
ENST00000370621.7:c.1750G>A ENSP00000359655.3:p.Glu584Lys
ENST00000393380.6:c.1750G>A ENSP00000377042.2:p.Glu584Lys
ENST00000503581.5:c.1750G>A ENSP00000424243.1:p.Glu584Lys
NM_001142800.1:c.1750G>A NP_001136272.1:p.Glu584Lys
NM_001142801.1:c.1750G>A NP_001136273.1:p.Glu584Lys
NM_001292009.1:c.1750G>A NP_001278938.1:p.Glu584Lys
NM_198283.1:c.1750G>A NP_938024.1:p.Glu584Lys
NM_001142800.2:c.1750G>A MANE Select NP_001136272.1:p.Glu584Lys
NM_001142801.2:c.1750G>A NP_001136273.1:p.Glu584Lys
NM_001292009.2:c.1750G>A NP_001278938.1:p.Glu584Lys
NM_198283.2:c.1750G>A NP_938024.1:p.Glu584Lys
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