Canonical Allele Identifier: CA364385522
Gene: EYS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788236T>G , CM000668.2:g.63788236T>G GRCh38
NC_000006.11:g.64498129T>G , CM000668.1:g.64498129T>G GRCh37
NC_000006.10:g.64556088T>G NCBI36
NG_023443.1:g.1923990A>C
NG_023443.2:g.1923990A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7592A>C MANE Select ENSP00000424243.1:p.Lys2531Thr
ENST00000370616.6:c.7592A>C ENSP00000359650.2:p.Lys2531Thr
ENST00000370618.7:c.7592A>C ENSP00000359652.4:p.Lys2531Thr
ENST00000370621.7:c.7592A>C ENSP00000359655.3:p.Lys2531Thr
ENST00000398580.3:c.906A>C
ENST00000486069.1:n.232A>C
ENST00000503581.5:c.7592A>C ENSP00000424243.1:p.Lys2531Thr
NM_001142800.1:c.7592A>C NP_001136272.1:p.Lys2531Thr
NM_001292009.1:c.7592A>C NP_001278938.1:p.Lys2531Thr
NM_001142800.2:c.7592A>C MANE Select NP_001136272.1:p.Lys2531Thr
NM_001292009.2:c.7592A>C NP_001278938.1:p.Lys2531Thr