Canonical Allele Identifier: CA364787391
Gene: EYS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65057626G>C , CM000668.2:g.65057626G>C GRCh38
NC_000006.11:g.65767519G>C , CM000668.1:g.65767519G>C GRCh37
NC_000006.10:g.65824240G>C NCBI36
NG_023443.1:g.654600C>G
NG_023443.2:g.654600C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000503581.6:c.2125C>G MANE Select ENSP00000424243.1:p.Pro709Ala
ENST00000370616.6:c.2125C>G ENSP00000359650.2:p.Pro709Ala
ENST00000370618.7:c.2125C>G ENSP00000359652.4:p.Pro709Ala
ENST00000370621.7:c.2125C>G ENSP00000359655.3:p.Pro709Ala
ENST00000503581.5:c.2125C>G ENSP00000424243.1:p.Pro709Ala
NM_001142800.1:c.2125C>G NP_001136272.1:p.Pro709Ala
NM_001292009.1:c.2125C>G NP_001278938.1:p.Pro709Ala
NM_001142800.2:c.2125C>G MANE Select NP_001136272.1:p.Pro709Ala
NM_001292009.2:c.2125C>G NP_001278938.1:p.Pro709Ala