Canonical Allele Identifier: CA3877243
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64886866G>A
GRCh37 chr6:g.65596759G>A
gnomAD v2:
6:65596759 G / A
gnomAD v3:
6:64886866 G / A
gnomAD v4:
chr6-64886866-G-A
Joint Max Group AF 0.85025021 (AMR)
Genomes Max Group AF 0.83698821 (AFR)
Exomes Max Group AF 0.85334929 (AMR)
ClinVar RCV:
RCV001530515
RCV001619939
ClinVar Variation:
1175362
dbSNP:
7743515
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64886866G>A , CM000668.2:g.64886866G>A GRCh38
NC_000006.11:g.65596759G>A , CM000668.1:g.65596759G>A GRCh37
NC_000006.10:g.65653480G>A NCBI36
NG_023443.1:g.825360C>T
NG_023443.2:g.825360C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.2847-24C>T MANE Select ENSP00000424243.1:n.2847-24C>T
ENST00000370616.6:c.2847-24C>T ENSP00000359650.2:n.2847-24C>T
ENST00000370618.7:c.2847-24C>T ENSP00000359652.4:n.2847-24C>T
ENST00000370621.7:c.2847-24C>T ENSP00000359655.3:n.2847-24C>T
ENST00000503581.5:c.2847-24C>T ENSP00000424243.1:n.2847-24C>T
NM_001142800.1:c.2847-24C>T NP_001136272.1:n.2847-24C>T
NM_001292009.1:c.2847-24C>T NP_001278938.1:n.2847-24C>T
NM_001142800.2:c.2847-24C>T MANE Select NP_001136272.1:n.2847-24C>T
NM_001292009.2:c.2847-24C>T NP_001278938.1:n.2847-24C>T
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