Canonical Allele Identifier: CA270051

Gene: EYS

Linked Data

• ClinVar Variation Id: 143101
• ClinVar RCV Id: RCV000132622 ; RCV001849952 ; RCV003462050
• dbSNP Id: rs527236072
• gnomAD v4: 6-65334996-C-A
• MyVariant Identifiers: chr6:g.66044889C>A (hg19) ; chr6:g.65334996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65334996C>A , CM000668.2:g.65334996C>A	GRCh38
NC_000006.11:g.66044889C>A , CM000668.1:g.66044889C>A	GRCh37
NC_000006.10:g.66101610C>A	NCBI36
NG_023443.1:g.377230G>T
NG_023443.2:g.377230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.1750G>T MANE Select	ENSP00000424243.1:p.Glu584Ter
ENST00000342421.9:c.1750G>T	ENSP00000341818.5:p.Glu584Ter
ENST00000370616.6:c.1750G>T	ENSP00000359650.2:p.Glu584Ter
ENST00000370618.7:c.1750G>T	ENSP00000359652.4:p.Glu584Ter
ENST00000370621.7:c.1750G>T	ENSP00000359655.3:p.Glu584Ter
ENST00000393380.6:c.1750G>T	ENSP00000377042.2:p.Glu584Ter
ENST00000503581.5:c.1750G>T	ENSP00000424243.1:p.Glu584Ter
NM_001142800.1:c.1750G>T	NP_001136272.1:p.Glu584Ter
NM_001142801.1:c.1750G>T	NP_001136273.1:p.Glu584Ter
NM_001292009.1:c.1750G>T	NP_001278938.1:p.Glu584Ter
NM_198283.1:c.1750G>T	NP_938024.1:p.Glu584Ter
NM_001142800.2:c.1750G>T MANE Select	NP_001136272.1:p.Glu584Ter
NM_001142801.2:c.1750G>T	NP_001136273.1:p.Glu584Ter
NM_001292009.2:c.1750G>T	NP_001278938.1:p.Glu584Ter
NM_198283.2:c.1750G>T	NP_938024.1:p.Glu584Ter