Canonical Allele Identifier: CA450758884

Gene: EYS

Linked Data

• ClinVar Variation Id: 1624866
• ClinVar RCV Id: RCV002106417
• dbSNP Id: rs1212504453
• gnomAD v3: 6-64230794-G-A
• gnomAD v4: 6-64230794-G-A
• MyVariant Identifiers: chr6:g.64940687G>A (hg19) ; chr6:g.64230794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230794G>A , CM000668.2:g.64230794G>A	GRCh38
NC_000006.11:g.64940687G>A , CM000668.1:g.64940687G>A	GRCh37
NC_000006.10:g.64998646G>A	NCBI36
NG_023443.1:g.1481432C>T
NG_023443.2:g.1481432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6222C>T MANE Select	ENSP00000424243.1:p.Ala2074=
ENST00000370616.6:c.6222C>T	ENSP00000359650.2:p.Ala2074=
ENST00000370618.7:c.6222C>T	ENSP00000359652.4:p.Ala2074=
ENST00000370621.7:c.6222C>T	ENSP00000359655.3:p.Ala2074=
ENST00000503581.5:c.6222C>T	ENSP00000424243.1:p.Ala2074=
NM_001142800.1:c.6222C>T	NP_001136272.1:p.Ala2074=
NM_001292009.1:c.6222C>T	NP_001278938.1:p.Ala2074=
NM_001142800.2:c.6222C>T MANE Select	NP_001136272.1:p.Ala2074=
NM_001292009.2:c.6222C>T	NP_001278938.1:p.Ala2074=