Canonical Allele Identifier: CA232827

Gene: EYS

Linked Data

• ClinVar Variation Id: 143102
• ClinVar RCV Id: RCV000132623 ; RCV000666256 ; RCV001159868 ; RCV003905240 ; RCV003888553
• dbSNP Id: rs150951106
• ExAC: 6:65336093 A / T
• gnomAD v2: 6-65336093-A-T
• gnomAD v3: 6-64626200-A-T
• gnomAD v4: 6-64626200-A-T
• MyVariant Identifiers: chr6:g.65336093A>T (hg19) ; chr6:g.64626200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64626200A>T , CM000668.2:g.64626200A>T	GRCh38
NC_000006.11:g.65336093A>T , CM000668.1:g.65336093A>T	GRCh37
NC_000006.10:g.65392814A>T	NCBI36
NG_023443.1:g.1086026T>A
NG_023443.2:g.1086026T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.3489T>A MANE Select	ENSP00000424243.1:p.Asn1163Lys
ENST00000330816.5:n.110T>A
ENST00000370616.6:c.3489T>A	ENSP00000359650.2:p.Asn1163Lys
ENST00000370618.7:c.3489T>A	ENSP00000359652.4:p.Asn1163Lys
ENST00000370621.7:c.3489T>A	ENSP00000359655.3:p.Asn1163Lys
ENST00000503581.5:c.3489T>A	ENSP00000424243.1:p.Asn1163Lys
NM_001142800.1:c.3489T>A	NP_001136272.1:p.Asn1163Lys
NM_001292009.1:c.3489T>A	NP_001278938.1:p.Asn1163Lys
NM_001142800.2:c.3489T>A MANE Select	NP_001136272.1:p.Asn1163Lys
NM_001292009.2:c.3489T>A	NP_001278938.1:p.Asn1163Lys