Canonical Allele Identifier: CA241169

Gene: EYS

Linked Data

• ClinVar Variation Id: 194931
• ClinVar RCV Id: RCV000175412 ; RCV000625444 ; RCV001161276 ; RCV001844069
• dbSNP Id: rs201819948
• ExAC: 6:65596611 G / A
• gnomAD v2: 6-65596611-G-A
• gnomAD v3: 6-64886718-G-A
• gnomAD v4: 6-64886718-G-A
• MyVariant Identifiers: chr6:g.65596611G>A (hg19) ; chr6:g.64886718G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64886718G>A , CM000668.2:g.64886718G>A	GRCh38
NC_000006.11:g.65596611G>A , CM000668.1:g.65596611G>A	GRCh37
NC_000006.10:g.65653332G>A	NCBI36
NG_023443.1:g.825508C>T
NG_023443.2:g.825508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2971C>T MANE Select	ENSP00000424243.1:p.Leu991Phe
ENST00000370616.6:c.2971C>T	ENSP00000359650.2:p.Leu991Phe
ENST00000370618.7:c.2971C>T	ENSP00000359652.4:p.Leu991Phe
ENST00000370621.7:c.2971C>T	ENSP00000359655.3:p.Leu991Phe
ENST00000503581.5:c.2971C>T	ENSP00000424243.1:p.Leu991Phe
NM_001142800.1:c.2971C>T	NP_001136272.1:p.Leu991Phe
NM_001292009.1:c.2971C>T	NP_001278938.1:p.Leu991Phe
NM_001142800.2:c.2971C>T MANE Select	NP_001136272.1:p.Leu991Phe
NM_001292009.2:c.2971C>T	NP_001278938.1:p.Leu991Phe