Canonical Allele Identifier: CA3876932
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1167862
ClinVar RCV Id: RCV001517565
dbSNP Id: rs568000643
ExAC: 6:64940636 A / G
gnomAD v2: 6-64940636-A-G
gnomAD v3: 6-64230743-A-G
gnomAD v4: 6-64230743-A-G
MyVariant Identifiers: chr6:g.64940636A>G (hg19) chr6:g.64230743A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230743A>G , CM000668.2:g.64230743A>G GRCh38
NC_000006.11:g.64940636A>G , CM000668.1:g.64940636A>G GRCh37
NC_000006.10:g.64998595A>G NCBI36
NG_023443.1:g.1481483T>C
NG_023443.2:g.1481483T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6273T>C MANE Select ENSP00000424243.1:p.Thr2091=
ENST00000370616.6:c.6273T>C ENSP00000359650.2:p.Thr2091=
ENST00000370618.7:c.6273T>C ENSP00000359652.4:p.Thr2091=
ENST00000370621.7:c.6273T>C ENSP00000359655.3:p.Thr2091=
ENST00000503581.5:c.6273T>C ENSP00000424243.1:p.Thr2091=
NM_001142800.1:c.6273T>C NP_001136272.1:p.Thr2091=
NM_001292009.1:c.6273T>C NP_001278938.1:p.Thr2091=
NM_001142800.2:c.6273T>C MANE Select NP_001136272.1:p.Thr2091=
NM_001292009.2:c.6273T>C NP_001278938.1:p.Thr2091=
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