Canonical Allele Identifier: CA3877025

Gene: EYS

Linked Data

• ClinVar Variation Id: 281813
• ClinVar RCV Id: RCV000356774 ; RCV001833313 ; RCV003947838
• dbSNP Id: rs186499459
• ExAC: 6:65300425 C / T
• gnomAD v2: 6-65300425-C-T
• gnomAD v3: 6-64590532-C-T
• gnomAD v4: 6-64590532-C-T
• MyVariant Identifiers: chr6:g.65300425C>T (hg19) ; chr6:g.64590532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64590532C>T , CM000668.2:g.64590532C>T	GRCh38
NC_000006.11:g.65300425C>T , CM000668.1:g.65300425C>T	GRCh37
NC_000006.10:g.65357146C>T	NCBI36
NG_023443.1:g.1121694G>A
NG_023443.2:g.1121694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.5335G>A MANE Select	ENSP00000424243.1:p.Gly1779Ser
ENST00000370616.6:c.5335G>A	ENSP00000359650.2:p.Gly1779Ser
ENST00000370618.7:c.5335G>A	ENSP00000359652.4:p.Gly1779Ser
ENST00000370621.7:c.5335G>A	ENSP00000359655.3:p.Gly1779Ser
ENST00000503581.5:c.5335G>A	ENSP00000424243.1:p.Gly1779Ser
NM_001142800.1:c.5335G>A	NP_001136272.1:p.Gly1779Ser
NM_001292009.1:c.5335G>A	NP_001278938.1:p.Gly1779Ser
NM_001142800.2:c.5335G>A MANE Select	NP_001136272.1:p.Gly1779Ser
NM_001292009.2:c.5335G>A	NP_001278938.1:p.Gly1779Ser