Canonical Allele Identifier: CA242647

Gene: EYS

Linked Data

• ClinVar Variation Id: 195939
• ClinVar RCV Id: RCV000176626 ; RCV001272882 ; RCV002250587
• dbSNP Id: rs794727412
• gnomAD v2: 6-65300111-C-T
• gnomAD v3: 6-64590218-C-T
• gnomAD v4: 6-64590218-C-T
• MyVariant Identifiers: chr6:g.65300111C>T (hg19) ; chr6:g.64590218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64590218C>T , CM000668.2:g.64590218C>T	GRCh38
NC_000006.11:g.65300111C>T , CM000668.1:g.65300111C>T	GRCh37
NC_000006.10:g.65356832C>T	NCBI36
NG_023443.1:g.1122008G>A
NG_023443.2:g.1122008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.5644+5G>A MANE Select	ENSP00000424243.1:n.5644+5G>A
ENST00000370616.6:c.5644+5G>A	ENSP00000359650.2:n.5644+5G>A
ENST00000370618.7:c.5644+5G>A	ENSP00000359652.4:n.5644+5G>A
ENST00000370621.7:c.5644+5G>A	ENSP00000359655.3:n.5644+5G>A
ENST00000503581.5:c.5644+5G>A	ENSP00000424243.1:n.5644+5G>A
NM_001142800.1:c.5644+5G>A	NP_001136272.1:n.5644+5G>A
NM_001292009.1:c.5644+5G>A	NP_001278938.1:n.5644+5G>A
NM_001142800.2:c.5644+5G>A MANE Select	NP_001136272.1:n.5644+5G>A
NM_001292009.2:c.5644+5G>A	NP_001278938.1:n.5644+5G>A