Canonical Allele Identifier: CA199162
Gene: EYS HGNC NCBI

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
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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
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