Canonical Allele Identifier: CA140278469
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64081870C>G
GRCh37 chr6:g.64791763C>G
Revel Score:
ENST00000503581 (MANE Select) 0.425
ENST00000370621 0.425
ENST00000370616 0.425
gnomAD v3:
6:64081870 C / G
gnomAD v4:
chr6-64081870-C-G
Joint Max Group AF 0.00000914 (NFE)
Exomes Max Group AF 0.00000889 (NFE)
ClinVar RCV:
RCV002603841
ClinVar Variation:
1919292
dbSNP:
527236068
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64081870C>G , CM000668.2:g.64081870C>G GRCh38
NC_000006.11:g.64791763C>G , CM000668.1:g.64791763C>G GRCh37
NC_000006.10:g.64849722C>G NCBI36
NG_023443.1:g.1630356G>C
NG_023443.2:g.1630356G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6557G>C MANE Select ENSP00000424243.1:p.Gly2186Ala
ENST00000370616.6:c.6557G>C ENSP00000359650.2:p.Gly2186Ala
ENST00000370618.7:c.6557G>C ENSP00000359652.4:p.Gly2186Ala
ENST00000370621.7:c.6557G>C ENSP00000359655.3:p.Gly2186Ala
ENST00000503581.5:c.6557G>C ENSP00000424243.1:p.Gly2186Ala
NM_001142800.1:c.6557G>C NP_001136272.1:p.Gly2186Ala
NM_001292009.1:c.6557G>C NP_001278938.1:p.Gly2186Ala
NM_001142800.2:c.6557G>C MANE Select NP_001136272.1:p.Gly2186Ala
NM_001292009.2:c.6557G>C NP_001278938.1:p.Gly2186Ala
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