Canonical Allele Identifier: CA364781401
Gene: EYS HGNC NCBI

Linked Data

dbSNP Id: rs1766372177

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64590568C>A , CM000668.2:g.64590568C>A GRCh38
NC_000006.11:g.65300461C>A , CM000668.1:g.65300461C>A GRCh37
NC_000006.10:g.65357182C>A NCBI36
NG_023443.1:g.1121658G>T
NG_023443.2:g.1121658G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.5299G>T MANE Select ENSP00000424243.1:p.Ala1767Ser
ENST00000370616.6:c.5299G>T ENSP00000359650.2:p.Ala1767Ser
ENST00000370618.7:c.5299G>T ENSP00000359652.4:p.Ala1767Ser
ENST00000370621.7:c.5299G>T ENSP00000359655.3:p.Ala1767Ser
ENST00000503581.5:c.5299G>T ENSP00000424243.1:p.Ala1767Ser
NM_001142800.1:c.5299G>T NP_001136272.1:p.Ala1767Ser
NM_001292009.1:c.5299G>T NP_001278938.1:p.Ala1767Ser
NM_001142800.2:c.5299G>T MANE Select NP_001136272.1:p.Ala1767Ser
NM_001292009.2:c.5299G>T NP_001278938.1:p.Ala1767Ser