Canonical Allele Identifier: CA10627415

Gene: EYS

Linked Data

• ClinVar Variation Id: 357720
• ClinVar RCV Id: RCV000406722 ; RCV000953058
• dbSNP Id: rs886061680
• gnomAD v4: 6-64886688-T-C
• MyVariant Identifiers: chr6:g.65596581T>C (hg19) ; chr6:g.64886688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64886688T>C , CM000668.2:g.64886688T>C	GRCh38
NC_000006.11:g.65596581T>C , CM000668.1:g.65596581T>C	GRCh37
NC_000006.10:g.65653302T>C	NCBI36
NG_023443.1:g.825538A>G
NG_023443.2:g.825538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2992+9A>G MANE Select	ENSP00000424243.1:n.2992+9A>G
ENST00000370616.6:c.2992+9A>G	ENSP00000359650.2:n.2992+9A>G
ENST00000370618.7:c.2992+9A>G	ENSP00000359652.4:n.2992+9A>G
ENST00000370621.7:c.2992+9A>G	ENSP00000359655.3:n.2992+9A>G
ENST00000503581.5:c.2992+9A>G	ENSP00000424243.1:n.2992+9A>G
NM_001142800.1:c.2992+9A>G	NP_001136272.1:n.2992+9A>G
NM_001292009.1:c.2992+9A>G	NP_001278938.1:n.2992+9A>G
NM_001142800.2:c.2992+9A>G MANE Select	NP_001136272.1:n.2992+9A>G
NM_001292009.2:c.2992+9A>G	NP_001278938.1:n.2992+9A>G