Canonical Allele Identifier: CA1633626665
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230699T= , CM000668.2:g.64230699T= GRCh38
NC_000006.11:g.64940592T= , CM000668.1:g.64940592T= GRCh37
NC_000006.10:g.64998551T= NCBI36
NG_023443.1:g.1481527A=
NG_023443.2:g.1481527A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6317A= MANE Select ENSP00000424243.1:p.Asp2106=
ENST00000370616.6:c.6317A= ENSP00000359650.2:p.Asp2106=
ENST00000370618.7:c.6317A= ENSP00000359652.4:p.Asp2106=
ENST00000370621.7:c.6317A= ENSP00000359655.3:p.Asp2106=
ENST00000503581.5:c.6317A= ENSP00000424243.1:p.Asp2106=
NM_001142800.1:c.6317A= NP_001136272.1:p.Asp2106=
NM_001292009.1:c.6317A= NP_001278938.1:p.Asp2106=
NM_001142800.2:c.6317A= MANE Select NP_001136272.1:p.Asp2106=
NM_001292009.2:c.6317A= NP_001278938.1:p.Asp2106=