Canonical Allele Identifier: CA364385480
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 835514
ClinVar RCV Id: RCV001036407
dbSNP Id: rs1770416806
gnomAD v4: 6-63788218-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788218G>A , CM000668.2:g.63788218G>A GRCh38
NC_000006.11:g.64498111G>A , CM000668.1:g.64498111G>A GRCh37
NC_000006.10:g.64556070G>A NCBI36
NG_023443.1:g.1924008C>T
NG_023443.2:g.1924008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7610C>T MANE Select ENSP00000424243.1:p.Ala2537Val
ENST00000370616.6:c.7610C>T ENSP00000359650.2:p.Ala2537Val
ENST00000370618.7:c.7610C>T ENSP00000359652.4:p.Ala2537Val
ENST00000370621.7:c.7610C>T ENSP00000359655.3:p.Ala2537Val
ENST00000398580.3:c.924C>T
ENST00000486069.1:n.250C>T
ENST00000503581.5:c.7610C>T ENSP00000424243.1:p.Ala2537Val
NM_001142800.1:c.7610C>T NP_001136272.1:p.Ala2537Val
NM_001292009.1:c.7610C>T NP_001278938.1:p.Ala2537Val
NM_001142800.2:c.7610C>T MANE Select NP_001136272.1:p.Ala2537Val
NM_001292009.2:c.7610C>T NP_001278938.1:p.Ala2537Val