Canonical Allele Identifier: CA3876855

Gene: EYS

Linked Data

• ClinVar Variation Id: 357695
• ClinVar RCV Id: RCV000401845 ; RCV000998642 ; RCV001833474 ; RCV002524500
• dbSNP Id: rs201304559
• ExAC: 6:64694297 C / T
• gnomAD v2: 6-64694297-C-T
• gnomAD v3: 6-63984404-C-T
• gnomAD v4: 6-63984404-C-T
• MyVariant Identifiers: chr6:g.64694297C>T (hg19) ; chr6:g.63984404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984404C>T , CM000668.2:g.63984404C>T	GRCh38
NC_000006.11:g.64694297C>T , CM000668.1:g.64694297C>T	GRCh37
NC_000006.10:g.64752256C>T	NCBI36
NG_023443.1:g.1727822G>A
NG_023443.2:g.1727822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7034G>A MANE Select	ENSP00000424243.1:p.Arg2345His
ENST00000370616.6:c.7034G>A	ENSP00000359650.2:p.Arg2345His
ENST00000370618.7:c.7034G>A	ENSP00000359652.4:p.Arg2345His
ENST00000370621.7:c.7034G>A	ENSP00000359655.3:p.Arg2345His
ENST00000398580.3:c.348G>A
ENST00000503581.5:c.7034G>A	ENSP00000424243.1:p.Arg2345His
NM_001142800.1:c.7034G>A	NP_001136272.1:p.Arg2345His
NM_001292009.1:c.7034G>A	NP_001278938.1:p.Arg2345His
XR_001744188.1:n.606+16120C>T
XR_001744189.1:n.129+16120C>T
XR_001744190.1:n.197+16120C>T
XR_001744191.1:n.607-1250C>T
NM_001142800.2:c.7034G>A MANE Select	NP_001136272.1:p.Arg2345His
NM_001292009.2:c.7034G>A	NP_001278938.1:p.Arg2345His