Canonical Allele Identifier: CA364385550

Gene: EYS

Linked Data

• dbSNP Id: rs1261927567
• gnomAD v4: 6-63788248-A-G
• MyVariant Identifiers: chr6:g.64498141A>G (hg19) ; chr6:g.63788248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788248A>G , CM000668.2:g.63788248A>G	GRCh38
NC_000006.11:g.64498141A>G , CM000668.1:g.64498141A>G	GRCh37
NC_000006.10:g.64556100A>G	NCBI36
NG_023443.1:g.1923978T>C
NG_023443.2:g.1923978T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7580T>C MANE Select	ENSP00000424243.1:p.Val2527Ala
ENST00000370616.6:c.7580T>C	ENSP00000359650.2:p.Val2527Ala
ENST00000370618.7:c.7580T>C	ENSP00000359652.4:p.Val2527Ala
ENST00000370621.7:c.7580T>C	ENSP00000359655.3:p.Val2527Ala
ENST00000398580.3:c.894T>C
ENST00000486069.1:n.220T>C
ENST00000503581.5:c.7580T>C	ENSP00000424243.1:p.Val2527Ala
NM_001142800.1:c.7580T>C	NP_001136272.1:p.Val2527Ala
NM_001292009.1:c.7580T>C	NP_001278938.1:p.Val2527Ala
NM_001142800.2:c.7580T>C MANE Select	NP_001136272.1:p.Val2527Ala
NM_001292009.2:c.7580T>C	NP_001278938.1:p.Val2527Ala