Canonical Allele Identifier: CA241009

Gene: EYS

Linked Data

• ClinVar Variation Id: 194823
• ClinVar RCV Id: RCV000175284 ; RCV000665715 ; RCV001161279 ; RCV001278511 ; RCV003917623
• dbSNP Id: rs367857088
• ExAC: 6:65612039 T / C
• gnomAD v2: 6-65612039-T-C
• gnomAD v3: 6-64902146-T-C
• gnomAD v4: 6-64902146-T-C
• MyVariant Identifiers: chr6:g.65612039T>C (hg19) ; chr6:g.64902146T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64902146T>C , CM000668.2:g.64902146T>C	GRCh38
NC_000006.11:g.65612039T>C , CM000668.1:g.65612039T>C	GRCh37
NC_000006.10:g.65668760T>C	NCBI36
NG_023443.1:g.810080A>G
NG_023443.2:g.810080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2813A>G MANE Select	ENSP00000424243.1:p.Lys938Arg
ENST00000370616.6:c.2813A>G	ENSP00000359650.2:p.Lys938Arg
ENST00000370618.7:c.2813A>G	ENSP00000359652.4:p.Lys938Arg
ENST00000370621.7:c.2813A>G	ENSP00000359655.3:p.Lys938Arg
ENST00000503581.5:c.2813A>G	ENSP00000424243.1:p.Lys938Arg
NM_001142800.1:c.2813A>G	NP_001136272.1:p.Lys938Arg
NM_001292009.1:c.2813A>G	NP_001278938.1:p.Lys938Arg
NM_001142800.2:c.2813A>G MANE Select	NP_001136272.1:p.Lys938Arg
NM_001292009.2:c.2813A>G	NP_001278938.1:p.Lys938Arg