Canonical Allele Identifier: CA180014

Gene: EYS

Linked Data

• ClinVar Variation Id: 167051
• ClinVar RCV Id: RCV000153212 ; RCV000584981 ; RCV000625442 ; RCV001164682 ; RCV003965140 ; RCV003888588
• dbSNP Id: rs147641443
• ExAC: 6:65300775 T / A
• gnomAD v2: 6-65300775-T-A
• gnomAD v3: 6-64590882-T-A
• gnomAD v4: 6-64590882-T-A
• MyVariant Identifiers: chr6:g.65300775T>A (hg19) ; chr6:g.64590882T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64590882T>A , CM000668.2:g.64590882T>A	GRCh38
NC_000006.11:g.65300775T>A , CM000668.1:g.65300775T>A	GRCh37
NC_000006.10:g.65357496T>A	NCBI36
NG_023443.1:g.1121344A>T
NG_023443.2:g.1121344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.4985A>T MANE Select	ENSP00000424243.1:p.Asp1662Val
ENST00000370616.6:c.4985A>T	ENSP00000359650.2:p.Asp1662Val
ENST00000370618.7:c.4985A>T	ENSP00000359652.4:p.Asp1662Val
ENST00000370621.7:c.4985A>T	ENSP00000359655.3:p.Asp1662Val
ENST00000503581.5:c.4985A>T	ENSP00000424243.1:p.Asp1662Val
NM_001142800.1:c.4985A>T	NP_001136272.1:p.Asp1662Val
NM_001292009.1:c.4985A>T	NP_001278938.1:p.Asp1662Val
NM_001142800.2:c.4985A>T MANE Select	NP_001136272.1:p.Asp1662Val
NM_001292009.2:c.4985A>T	NP_001278938.1:p.Asp1662Val