Canonical Allele Identifier: CA1633415849
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788473A= , CM000668.2:g.63788473A= GRCh38
NC_000006.11:g.64498366A= , CM000668.1:g.64498366A= GRCh37
NC_000006.10:g.64556325A= NCBI36
NG_023443.1:g.1923753T=
NG_023443.2:g.1923753T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7579-224T= MANE Select ENSP00000424243.1:n.7579-224T=
ENST00000370616.6:c.7579-224T= ENSP00000359650.2:n.7579-224T=
ENST00000370618.7:c.7579-224T= ENSP00000359652.4:n.7579-224T=
ENST00000370621.7:c.7579-224T= ENSP00000359655.3:n.7579-224T=
ENST00000398580.3:c.893-224T=
ENST00000486069.1:n.219-224T=
ENST00000503581.5:c.7579-224T= ENSP00000424243.1:n.7579-224T=
NM_001142800.1:c.7579-224T= NP_001136272.1:n.7579-224T=
NM_001292009.1:c.7579-224T= NP_001278938.1:n.7579-224T=
NM_001142800.2:c.7579-224T= MANE Select NP_001136272.1:n.7579-224T=
NM_001292009.2:c.7579-224T= NP_001278938.1:n.7579-224T=