Canonical Allele Identifier: CA364391193
Gene: EYS HGNC NCBI

Linked Data

dbSNP Id: rs1355797286
gnomAD v2: 6-64940511-T-G
gnomAD v3: 6-64230618-T-G
gnomAD v4: 6-64230618-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230618T>G , CM000668.2:g.64230618T>G GRCh38
NC_000006.11:g.64940511T>G , CM000668.1:g.64940511T>G GRCh37
NC_000006.10:g.64998470T>G NCBI36
NG_023443.1:g.1481608A>C
NG_023443.2:g.1481608A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6398A>C MANE Select ENSP00000424243.1:p.His2133Pro
ENST00000370616.6:c.6398A>C ENSP00000359650.2:p.His2133Pro
ENST00000370618.7:c.6398A>C ENSP00000359652.4:p.His2133Pro
ENST00000370621.7:c.6398A>C ENSP00000359655.3:p.His2133Pro
ENST00000503581.5:c.6398A>C ENSP00000424243.1:p.His2133Pro
NM_001142800.1:c.6398A>C NP_001136272.1:p.His2133Pro
NM_001292009.1:c.6398A>C NP_001278938.1:p.His2133Pro
NM_001142800.2:c.6398A>C MANE Select NP_001136272.1:p.His2133Pro
NM_001292009.2:c.6398A>C NP_001278938.1:p.His2133Pro