Canonical Allele Identifier: CA10627426

Gene: EYS

Linked Data

• ClinVar Variation Id: 357738
• ClinVar RCV Id: RCV000368743 ; RCV000976441 ; RCV001833476
• dbSNP Id: rs565864295
• gnomAD v2: 6-66005829-C-T
• gnomAD v3: 6-65295936-C-T
• gnomAD v4: 6-65295936-C-T
• COSMIC: COSM5774912
• MyVariant Identifiers: chr6:g.66005829C>T (hg19) ; chr6:g.65295936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65295936C>T , CM000668.2:g.65295936C>T	GRCh38
NC_000006.11:g.66005829C>T , CM000668.1:g.66005829C>T	GRCh37
NC_000006.10:g.66062550C>T	NCBI36
NG_023443.1:g.416290G>A
NG_023443.2:g.416290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.1950G>A MANE Select	ENSP00000424243.1:p.Ala650=
ENST00000370615.3:n.388G>A
ENST00000370616.6:c.1950G>A	ENSP00000359650.2:p.Ala650=
ENST00000370618.7:c.1950G>A	ENSP00000359652.4:p.Ala650=
ENST00000370621.7:c.1950G>A	ENSP00000359655.3:p.Ala650=
ENST00000447127.1:n.406G>A
ENST00000503581.5:c.1950G>A	ENSP00000424243.1:p.Ala650=
NM_001142800.1:c.1950G>A	NP_001136272.1:p.Ala650=
NM_001292009.1:c.1950G>A	NP_001278938.1:p.Ala650=
NM_001142800.2:c.1950G>A MANE Select	NP_001136272.1:p.Ala650=
NM_001292009.2:c.1950G>A	NP_001278938.1:p.Ala650=