Canonical Allele Identifier: CA275110

Gene: EYS

Linked Data

• ClinVar Variation Id: 195665
• ClinVar RCV Id: RCV000176281 ; RCV000724528 ; RCV001074850 ; RCV001274886 ; RCV003398889
• dbSNP Id: rs373441420
• ExAC: 6:65523270 C / A
• gnomAD v2: 6-65523270-C-A
• gnomAD v3: 6-64813377-C-A
• gnomAD v4: 6-64813377-C-A
• MyVariant Identifiers: chr6:g.65523270C>A (hg19) ; chr6:g.64813377C>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64813377C>A , CM000668.2:g.64813377C>A	GRCh38
NC_000006.11:g.65523270C>A , CM000668.1:g.65523270C>A	GRCh37
NC_000006.10:g.65579991C>A	NCBI36
NG_023443.1:g.898849G>T
NG_023443.2:g.898849G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.3443+1G>T MANE Select	ENSP00000424243.1:n.3443+1G>T
ENST00000370616.6:c.3443+1G>T	ENSP00000359650.2:n.3443+1G>T
ENST00000370618.7:c.3443+1G>T	ENSP00000359652.4:n.3443+1G>T
ENST00000370621.7:c.3443+1G>T	ENSP00000359655.3:n.3443+1G>T
ENST00000503581.5:c.3443+1G>T	ENSP00000424243.1:n.3443+1G>T
NM_001142800.1:c.3443+1G>T	NP_001136272.1:n.3443+1G>T
NM_001292009.1:c.3443+1G>T	NP_001278938.1:n.3443+1G>T
NM_001142800.2:c.3443+1G>T MANE Select	NP_001136272.1:n.3443+1G>T
NM_001292009.2:c.3443+1G>T	NP_001278938.1:n.3443+1G>T