Canonical Allele Identifier: CA10624520
Gene: EYS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.64902391A>G
GRCh37 chr6:g.65612284A>G
gnomAD v2:
6:65612284 A / G
gnomAD v3:
6:64902391 A / G
gnomAD v4:
chr6-64902391-A-G
Joint Max Group AF 0.00008315 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.0000838 (NFE)
ClinVar RCV:
RCV000370347
RCV002058625
ClinVar Variation:
357725
dbSNP:
886061682
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64902391A>G , CM000668.2:g.64902391A>G GRCh38
NC_000006.11:g.65612284A>G , CM000668.1:g.65612284A>G GRCh37
NC_000006.10:g.65669005A>G NCBI36
NG_023443.1:g.809835T>C
NG_023443.2:g.809835T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.2738+13T>C MANE Select ENSP00000424243.1:n.2738+13T>C
ENST00000370616.6:c.2738+13T>C ENSP00000359650.2:n.2738+13T>C
ENST00000370618.7:c.2738+13T>C ENSP00000359652.4:n.2738+13T>C
ENST00000370621.7:c.2738+13T>C ENSP00000359655.3:n.2738+13T>C
ENST00000503581.5:c.2738+13T>C ENSP00000424243.1:n.2738+13T>C
NM_001142800.1:c.2738+13T>C NP_001136272.1:n.2738+13T>C
NM_001292009.1:c.2738+13T>C NP_001278938.1:n.2738+13T>C
NM_001142800.2:c.2738+13T>C MANE Select NP_001136272.1:n.2738+13T>C
NM_001292009.2:c.2738+13T>C NP_001278938.1:n.2738+13T>C
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