Canonical Allele Identifier: CA10624520

Gene: EYS

Linked Data

• ClinVar Variation Id: 357725
• ClinVar RCV Id: RCV000370347 ; RCV002058625
• dbSNP Id: rs886061682
• gnomAD v2: 6-65612284-A-G
• gnomAD v3: 6-64902391-A-G
• gnomAD v4: 6-64902391-A-G
• MyVariant Identifiers: chr6:g.65612284A>G (hg19) ; chr6:g.64902391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64902391A>G , CM000668.2:g.64902391A>G	GRCh38
NC_000006.11:g.65612284A>G , CM000668.1:g.65612284A>G	GRCh37
NC_000006.10:g.65669005A>G	NCBI36
NG_023443.1:g.809835T>C
NG_023443.2:g.809835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2738+13T>C MANE Select	ENSP00000424243.1:n.2738+13T>C
ENST00000370616.6:c.2738+13T>C	ENSP00000359650.2:n.2738+13T>C
ENST00000370618.7:c.2738+13T>C	ENSP00000359652.4:n.2738+13T>C
ENST00000370621.7:c.2738+13T>C	ENSP00000359655.3:n.2738+13T>C
ENST00000503581.5:c.2738+13T>C	ENSP00000424243.1:n.2738+13T>C
NM_001142800.1:c.2738+13T>C	NP_001136272.1:n.2738+13T>C
NM_001292009.1:c.2738+13T>C	NP_001278938.1:n.2738+13T>C
NM_001142800.2:c.2738+13T>C MANE Select	NP_001136272.1:n.2738+13T>C
NM_001292009.2:c.2738+13T>C	NP_001278938.1:n.2738+13T>C