Canonical Allele Identifier: CA450758769

Gene: EYS

Linked Data

• ClinVar Variation Id: 2976192
• ClinVar RCV Id: RCV003836342
• gnomAD v4: 6-64230626-A-G
• MyVariant Identifiers: chr6:g.64940519A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230626A>G , CM000668.2:g.64230626A>G	GRCh38
NC_000006.11:g.64940519A>G , CM000668.1:g.64940519A>G	GRCh37
NC_000006.10:g.64998478A>G	NCBI36
NG_023443.1:g.1481600T>C
NG_023443.2:g.1481600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6390T>C MANE Select	ENSP00000424243.1:p.Cys2130=
ENST00000370616.6:c.6390T>C	ENSP00000359650.2:p.Cys2130=
ENST00000370618.7:c.6390T>C	ENSP00000359652.4:p.Cys2130=
ENST00000370621.7:c.6390T>C	ENSP00000359655.3:p.Cys2130=
ENST00000503581.5:c.6390T>C	ENSP00000424243.1:p.Cys2130=
NM_001142800.1:c.6390T>C	NP_001136272.1:p.Cys2130=
NM_001292009.1:c.6390T>C	NP_001278938.1:p.Cys2130=
NM_001142800.2:c.6390T>C MANE Select	NP_001136272.1:p.Cys2130=
NM_001292009.2:c.6390T>C	NP_001278938.1:p.Cys2130=