Canonical Allele Identifier: CA3876930
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1026338
ClinVar RCV Id: RCV001326773 RCV001830385 RCV002546198
dbSNP Id: rs369266984
ExAC: 6:64940593 C / A
gnomAD v2: 6-64940593-C-A
gnomAD v3: 6-64230700-C-A
gnomAD v4: 6-64230700-C-A
MyVariant Identifiers: chr6:g.64940593C>A (hg19) chr6:g.64230700C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230700C>A , CM000668.2:g.64230700C>A GRCh38
NC_000006.11:g.64940593C>A , CM000668.1:g.64940593C>A GRCh37
NC_000006.10:g.64998552C>A NCBI36
NG_023443.1:g.1481526G>T
NG_023443.2:g.1481526G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6316G>T MANE Select ENSP00000424243.1:p.Asp2106Tyr
ENST00000370616.6:c.6316G>T ENSP00000359650.2:p.Asp2106Tyr
ENST00000370618.7:c.6316G>T ENSP00000359652.4:p.Asp2106Tyr
ENST00000370621.7:c.6316G>T ENSP00000359655.3:p.Asp2106Tyr
ENST00000503581.5:c.6316G>T ENSP00000424243.1:p.Asp2106Tyr
NM_001142800.1:c.6316G>T NP_001136272.1:p.Asp2106Tyr
NM_001292009.1:c.6316G>T NP_001278938.1:p.Asp2106Tyr
NM_001142800.2:c.6316G>T MANE Select NP_001136272.1:p.Asp2106Tyr
NM_001292009.2:c.6316G>T NP_001278938.1:p.Asp2106Tyr
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