Canonical Allele Identifier: CA450744217

Gene: EYS

Linked Data

• ClinVar Variation Id: 1583626
• ClinVar RCV Id: RCV002099911
• dbSNP Id: rs1487879752
• gnomAD v3: 6-63984469-A-G
• gnomAD v4: 6-63984469-A-G
• MyVariant Identifiers: chr6:g.64694362A>G (hg19) ; chr6:g.63984469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984469A>G , CM000668.2:g.63984469A>G	GRCh38
NC_000006.11:g.64694362A>G , CM000668.1:g.64694362A>G	GRCh37
NC_000006.10:g.64752321A>G	NCBI36
NG_023443.1:g.1727757T>C
NG_023443.2:g.1727757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6969T>C MANE Select	ENSP00000424243.1:p.Asp2323=
ENST00000370616.6:c.6969T>C	ENSP00000359650.2:p.Asp2323=
ENST00000370618.7:c.6969T>C	ENSP00000359652.4:p.Asp2323=
ENST00000370621.7:c.6969T>C	ENSP00000359655.3:p.Asp2323=
ENST00000398580.3:c.283T>C
ENST00000503581.5:c.6969T>C	ENSP00000424243.1:p.Asp2323=
NM_001142800.1:c.6969T>C	NP_001136272.1:p.Asp2323=
NM_001292009.1:c.6969T>C	NP_001278938.1:p.Asp2323=
XR_001744188.1:n.606+16185A>G
XR_001744189.1:n.129+16185A>G
XR_001744190.1:n.197+16185A>G
XR_001744191.1:n.607-1185A>G
NM_001142800.2:c.6969T>C MANE Select	NP_001136272.1:p.Asp2323=
NM_001292009.2:c.6969T>C	NP_001278938.1:p.Asp2323=