Canonical Allele Identifier: CA10627384

Gene: EYS

Linked Data

• ClinVar Variation Id: 357716
• ClinVar RCV Id: RCV000342032 ; RCV002058624
• dbSNP Id: rs886061678
• gnomAD v4: 6-64593304-G-A
• MyVariant Identifiers: chr6:g.65303197G>A (hg19) ; chr6:g.64593304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64593304G>A , CM000668.2:g.64593304G>A	GRCh38
NC_000006.11:g.65303197G>A , CM000668.1:g.65303197G>A	GRCh37
NC_000006.10:g.65359918G>A	NCBI36
NG_023443.1:g.1118922C>T
NG_023443.2:g.1118922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.3690C>T MANE Select	ENSP00000424243.1:p.Cys1230=
ENST00000330816.5:n.311C>T
ENST00000370616.6:c.3690C>T	ENSP00000359650.2:p.Cys1230=
ENST00000370618.7:c.3690C>T	ENSP00000359652.4:p.Cys1230=
ENST00000370621.7:c.3690C>T	ENSP00000359655.3:p.Cys1230=
ENST00000503581.5:c.3690C>T	ENSP00000424243.1:p.Cys1230=
NM_001142800.1:c.3690C>T	NP_001136272.1:p.Cys1230=
NM_001292009.1:c.3690C>T	NP_001278938.1:p.Cys1230=
NM_001142800.2:c.3690C>T MANE Select	NP_001136272.1:p.Cys1230=
NM_001292009.2:c.3690C>T	NP_001278938.1:p.Cys1230=