Canonical Allele Identifier: CA199162

Gene: EYS

Linked Data

• ClinVar Variation Id: 189230
• ClinVar RCV Id: RCV000177524 ; RCV000169660 ; RCV001075403 ; RCV001376308 ; RCV001723741 ; RCV003895170
• dbSNP Id: rs749909863
• ExAC: 6:64940493 C / T
• gnomAD v2: 6-64940493-C-T
• gnomAD v3: 6-64230600-C-T
• gnomAD v4: 6-64230600-C-T
• MyVariant Identifiers: chr6:g.64940493C>T (hg19) ; chr6:g.64230600C>T (hg38)
• PubMed: PMID:20237254 ; PMID:20333770 ; PMID:23891399 ; PMID:24670872

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230600C>T , CM000668.2:g.64230600C>T	GRCh38
NC_000006.11:g.64940493C>T , CM000668.1:g.64940493C>T	GRCh37
NC_000006.10:g.64998452C>T	NCBI36
NG_023443.1:g.1481626G>A
NG_023443.2:g.1481626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6416G>A MANE Select	ENSP00000424243.1:p.Cys2139Tyr
ENST00000370616.6:c.6416G>A	ENSP00000359650.2:p.Cys2139Tyr
ENST00000370618.7:c.6416G>A	ENSP00000359652.4:p.Cys2139Tyr
ENST00000370621.7:c.6416G>A	ENSP00000359655.3:p.Cys2139Tyr
ENST00000503581.5:c.6416G>A	ENSP00000424243.1:p.Cys2139Tyr
NM_001142800.1:c.6416G>A	NP_001136272.1:p.Cys2139Tyr
NM_001292009.1:c.6416G>A	NP_001278938.1:p.Cys2139Tyr
NM_001142800.2:c.6416G>A MANE Select	NP_001136272.1:p.Cys2139Tyr
NM_001292009.2:c.6416G>A	NP_001278938.1:p.Cys2139Tyr