Canonical Allele Identifier: CA3876845

Gene: EYS

Linked Data

• ClinVar Variation Id: 357694
• ClinVar RCV Id: RCV000347421 ; RCV001513650
• dbSNP Id: rs139056492
• ExAC: 6:64574266 A / T
• gnomAD v2: 6-64574266-A-T
• gnomAD v3: 6-63864373-A-T
• gnomAD v4: 6-63864373-A-T
• MyVariant Identifiers: chr6:g.64574266A>T (hg19) ; chr6:g.63864373A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63864373A>T , CM000668.2:g.63864373A>T	GRCh38
NC_000006.11:g.64574266A>T , CM000668.1:g.64574266A>T	GRCh37
NC_000006.10:g.64632225A>T	NCBI36
NG_023443.1:g.1847853T>A
NG_023443.2:g.1847853T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7056-15T>A MANE Select	ENSP00000424243.1:n.7056-15T>A
ENST00000370616.6:c.7056-15T>A	ENSP00000359650.2:n.7056-15T>A
ENST00000370618.7:c.7056-15T>A	ENSP00000359652.4:n.7056-15T>A
ENST00000370621.7:c.7056-15T>A	ENSP00000359655.3:n.7056-15T>A
ENST00000398580.3:c.370-15T>A
ENST00000503581.5:c.7056-15T>A	ENSP00000424243.1:n.7056-15T>A
NM_001142800.1:c.7056-15T>A	NP_001136272.1:n.7056-15T>A
NM_001292009.1:c.7056-15T>A	NP_001278938.1:n.7056-15T>A
NM_001142800.2:c.7056-15T>A MANE Select	NP_001136272.1:n.7056-15T>A
NM_001292009.2:c.7056-15T>A	NP_001278938.1:n.7056-15T>A