Canonical Allele Identifier: CA364385298
Gene: EYS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788182T>A , CM000668.2:g.63788182T>A GRCh38
NC_000006.11:g.64498075T>A , CM000668.1:g.64498075T>A GRCh37
NC_000006.10:g.64556034T>A NCBI36
NG_023443.1:g.1924044A>T
NG_023443.2:g.1924044A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7646A>T MANE Select ENSP00000424243.1:p.Gln2549Leu
ENST00000370616.6:c.7646A>T ENSP00000359650.2:p.Gln2549Leu
ENST00000370618.7:c.7646A>T ENSP00000359652.4:p.Gln2549Leu
ENST00000370621.7:c.7646A>T ENSP00000359655.3:p.Gln2549Leu
ENST00000398580.3:c.960A>T
ENST00000486069.1:n.286A>T
ENST00000503581.5:c.7646A>T ENSP00000424243.1:p.Gln2549Leu
NM_001142800.1:c.7646A>T NP_001136272.1:p.Gln2549Leu
NM_001292009.1:c.7646A>T NP_001278938.1:p.Gln2549Leu
NM_001142800.2:c.7646A>T MANE Select NP_001136272.1:p.Gln2549Leu
NM_001292009.2:c.7646A>T NP_001278938.1:p.Gln2549Leu