Canonical Allele Identifier: CA450742833

Gene: EYS

Linked Data

• ClinVar Variation Id: 751622
• ClinVar RCV Id: RCV000928709
• dbSNP Id: rs1224190792
• gnomAD v2: 6-64498002-A-G
• gnomAD v4: 6-63788109-A-G
• MyVariant Identifiers: chr6:g.64498002A>G (hg19) ; chr6:g.63788109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788109A>G , CM000668.2:g.63788109A>G	GRCh38
NC_000006.11:g.64498002A>G , CM000668.1:g.64498002A>G	GRCh37
NC_000006.10:g.64555961A>G	NCBI36
NG_023443.1:g.1924117T>C
NG_023443.2:g.1924117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7719T>C MANE Select	ENSP00000424243.1:p.Phe2573=
ENST00000370616.6:c.7719T>C	ENSP00000359650.2:p.Phe2573=
ENST00000370618.7:c.7719T>C	ENSP00000359652.4:p.Phe2573=
ENST00000370621.7:c.7719T>C	ENSP00000359655.3:p.Phe2573=
ENST00000398580.3:c.1033T>C
ENST00000486069.1:n.359T>C
ENST00000503581.5:c.7719T>C	ENSP00000424243.1:p.Phe2573=
NM_001142800.1:c.7719T>C	NP_001136272.1:p.Phe2573=
NM_001292009.1:c.7719T>C	NP_001278938.1:p.Phe2573=
NM_001142800.2:c.7719T>C MANE Select	NP_001136272.1:p.Phe2573=
NM_001292009.2:c.7719T>C	NP_001278938.1:p.Phe2573=