Canonical Allele Identifier: CA10622573

Gene: EYS

Linked Data

• ClinVar Variation Id: 357691
• ClinVar RCV Id: RCV000343283 ; RCV003556362
• dbSNP Id: rs886061668
• gnomAD v2: 6-64516072-G-A
• gnomAD v4: 6-63806179-G-A
• MyVariant Identifiers: chr6:g.64516072G>A (hg19) ; chr6:g.63806179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63806179G>A , CM000668.2:g.63806179G>A	GRCh38
NC_000006.11:g.64516072G>A , CM000668.1:g.64516072G>A	GRCh37
NC_000006.10:g.64574031G>A	NCBI36
NG_023443.1:g.1906047C>T
NG_023443.2:g.1906047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7411+11C>T MANE Select	ENSP00000424243.1:n.7411+11C>T
ENST00000370616.6:c.7411+11C>T	ENSP00000359650.2:n.7411+11C>T
ENST00000370618.7:c.7411+11C>T	ENSP00000359652.4:n.7411+11C>T
ENST00000370621.7:c.7411+11C>T	ENSP00000359655.3:n.7411+11C>T
ENST00000398580.3:c.725+11C>T
ENST00000486069.1:n.51+11C>T
ENST00000503581.5:c.7411+11C>T	ENSP00000424243.1:n.7411+11C>T
NM_001142800.1:c.7411+11C>T	NP_001136272.1:n.7411+11C>T
NM_001292009.1:c.7411+11C>T	NP_001278938.1:n.7411+11C>T
NM_001142800.2:c.7411+11C>T MANE Select	NP_001136272.1:n.7411+11C>T
NM_001292009.2:c.7411+11C>T	NP_001278938.1:n.7411+11C>T