Canonical Allele Identifier: CA274990

Gene: EYS

Linked Data

• ClinVar Variation Id: 194194
• ClinVar RCV Id: RCV000174505 ; RCV001199681 ; RCV003468854
• dbSNP Id: rs372354156
• gnomAD v4: 6-65057696-A-T
• MyVariant Identifiers: chr6:g.65767589A>T (hg19) ; chr6:g.65057696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057696A>T , CM000668.2:g.65057696A>T	GRCh38
NC_000006.11:g.65767589A>T , CM000668.1:g.65767589A>T	GRCh37
NC_000006.10:g.65824310A>T	NCBI36
NG_023443.1:g.654530T>A
NG_023443.2:g.654530T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2055T>A MANE Select	ENSP00000424243.1:p.Cys685Ter
ENST00000370616.6:c.2055T>A	ENSP00000359650.2:p.Cys685Ter
ENST00000370618.7:c.2055T>A	ENSP00000359652.4:p.Cys685Ter
ENST00000370621.7:c.2055T>A	ENSP00000359655.3:p.Cys685Ter
ENST00000503581.5:c.2055T>A	ENSP00000424243.1:p.Cys685Ter
NM_001142800.1:c.2055T>A	NP_001136272.1:p.Cys685Ter
NM_001292009.1:c.2055T>A	NP_001278938.1:p.Cys685Ter
NM_001142800.2:c.2055T>A MANE Select	NP_001136272.1:p.Cys685Ter
NM_001292009.2:c.2055T>A	NP_001278938.1:p.Cys685Ter