Canonical Allele Identifier: CA3876985

Gene: EYS

Linked Data

• ClinVar Variation Id: 425384
• ClinVar RCV Id: RCV000488090 ; RCV001073586 ; RCV001161045 ; RCV003144285 ; RCV003932793
• dbSNP Id: rs188093810
• ExAC: 6:65149147 T / C
• gnomAD v2: 6-65149147-T-C
• gnomAD v3: 6-64439254-T-C
• gnomAD v4: 6-64439254-T-C
• MyVariant Identifiers: chr6:g.65149147T>C (hg19) ; chr6:g.64439254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64439254T>C , CM000668.2:g.64439254T>C	GRCh38
NC_000006.11:g.65149147T>C , CM000668.1:g.65149147T>C	GRCh37
NC_000006.10:g.65205868T>C	NCBI36
NG_023443.1:g.1272972A>G
NG_023443.2:g.1272972A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.5743A>G MANE Select	ENSP00000424243.1:p.Ser1915Gly
ENST00000370616.6:c.5743A>G	ENSP00000359650.2:p.Ser1915Gly
ENST00000370618.7:c.5743A>G	ENSP00000359652.4:p.Ser1915Gly
ENST00000370621.7:c.5743A>G	ENSP00000359655.3:p.Ser1915Gly
ENST00000503581.5:c.5743A>G	ENSP00000424243.1:p.Ser1915Gly
NM_001142800.1:c.5743A>G	NP_001136272.1:p.Ser1915Gly
NM_001292009.1:c.5743A>G	NP_001278938.1:p.Ser1915Gly
NM_001142800.2:c.5743A>G MANE Select	NP_001136272.1:p.Ser1915Gly
NM_001292009.2:c.5743A>G	NP_001278938.1:p.Ser1915Gly