Canonical Allele Identifier: CA202035

Gene: EYS

Linked Data

• ClinVar Variation Id: 195937
• ClinVar RCV Id: RCV000176624 ; RCV000504628 ; RCV000665978 ; RCV000963176
• dbSNP Id: rs199689193
• ExAC: 6:65300250 C / G
• gnomAD v2: 6-65300250-C-G
• gnomAD v3: 6-64590357-C-G
• gnomAD v4: 6-64590357-C-G
• MyVariant Identifiers: chr6:g.65300250C>G (hg19) ; chr6:g.64590357C>G (hg38)
• PubMed: PMID:24265693 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64590357C>G , CM000668.2:g.64590357C>G	GRCh38
NC_000006.11:g.65300250C>G , CM000668.1:g.65300250C>G	GRCh37
NC_000006.10:g.65356971C>G	NCBI36
NG_023443.1:g.1121869G>C
NG_023443.2:g.1121869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.5510G>C MANE Select	ENSP00000424243.1:p.Trp1837Ser
ENST00000370616.6:c.5510G>C	ENSP00000359650.2:p.Trp1837Ser
ENST00000370618.7:c.5510G>C	ENSP00000359652.4:p.Trp1837Ser
ENST00000370621.7:c.5510G>C	ENSP00000359655.3:p.Trp1837Ser
ENST00000503581.5:c.5510G>C	ENSP00000424243.1:p.Trp1837Ser
NM_001142800.1:c.5510G>C	NP_001136272.1:p.Trp1837Ser
NM_001292009.1:c.5510G>C	NP_001278938.1:p.Trp1837Ser
NM_001142800.2:c.5510G>C MANE Select	NP_001136272.1:p.Trp1837Ser
NM_001292009.2:c.5510G>C	NP_001278938.1:p.Trp1837Ser