Canonical Allele Identifier: CA147166

Gene: EYS

Linked Data

• ClinVar Variation Id: 93620
• ClinVar RCV Id: RCV001522330 ; RCV003888432
• dbSNP Id: rs4710457
• ExAC: 6:64694354 C / T
• gnomAD v2: 6-64694354-C-T
• gnomAD v3: 6-63984461-C-T
• gnomAD v4: 6-63984461-C-T
• MyVariant Identifiers: chr6:g.64694354C>T (hg19) ; chr6:g.63984461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984461C>T , CM000668.2:g.63984461C>T	GRCh38
NC_000006.11:g.64694354C>T , CM000668.1:g.64694354C>T	GRCh37
NC_000006.10:g.64752313C>T	NCBI36
NG_023443.1:g.1727765G>A
NG_023443.2:g.1727765G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.6977G>A MANE Select	ENSP00000424243.1:p.Arg2326Gln
ENST00000370616.6:c.6977G>A	ENSP00000359650.2:p.Arg2326Gln
ENST00000370618.7:c.6977G>A	ENSP00000359652.4:p.Arg2326Gln
ENST00000370621.7:c.6977G>A	ENSP00000359655.3:p.Arg2326Gln
ENST00000398580.3:c.291G>A
ENST00000503581.5:c.6977G>A	ENSP00000424243.1:p.Arg2326Gln
NM_001142800.1:c.6977G>A	NP_001136272.1:p.Arg2326Gln
NM_001292009.1:c.6977G>A	NP_001278938.1:p.Arg2326Gln
XR_001744188.1:n.606+16177C>T
XR_001744189.1:n.129+16177C>T
XR_001744190.1:n.197+16177C>T
XR_001744191.1:n.607-1193C>T
NM_001142800.2:c.6977G>A MANE Select	NP_001136272.1:p.Arg2326Gln
NM_001292009.2:c.6977G>A	NP_001278938.1:p.Arg2326Gln