Canonical Allele Identifier: CA1633415707
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788147C= , CM000668.2:g.63788147C= GRCh38
NC_000006.11:g.64498040C= , CM000668.1:g.64498040C= GRCh37
NC_000006.10:g.64555999C= NCBI36
NG_023443.1:g.1924079G=
NG_023443.2:g.1924079G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7681G= MANE Select ENSP00000424243.1:p.Asp2561=
ENST00000370616.6:c.7681G= ENSP00000359650.2:p.Asp2561=
ENST00000370618.7:c.7681G= ENSP00000359652.4:p.Asp2561=
ENST00000370621.7:c.7681G= ENSP00000359655.3:p.Asp2561=
ENST00000398580.3:c.995G=
ENST00000486069.1:n.321G=
ENST00000503581.5:c.7681G= ENSP00000424243.1:p.Asp2561=
NM_001142800.1:c.7681G= NP_001136272.1:p.Asp2561=
NM_001292009.1:c.7681G= NP_001278938.1:p.Asp2561=
NM_001142800.2:c.7681G= MANE Select NP_001136272.1:p.Asp2561=
NM_001292009.2:c.7681G= NP_001278938.1:p.Asp2561=