Canonical Allele Identifier: CA3877856

Gene: EYS

Linked Data

• dbSNP Id: rs760420364
• ExAC: 6:66112408 C / T
• gnomAD v2: 6-66112408-C-T
• gnomAD v3: 6-65402515-C-T
• gnomAD v4: 6-65402515-C-T
• MyVariant Identifiers: chr6:g.66112408C>T (hg19) ; chr6:g.65402515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65402515C>T , CM000668.2:g.65402515C>T	GRCh38
NC_000006.11:g.66112408C>T , CM000668.1:g.66112408C>T	GRCh37
NC_000006.10:g.66169129C>T	NCBI36
NG_023443.1:g.309711G>A
NG_023443.2:g.309711G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.1147G>A MANE Select	ENSP00000424243.1:p.Ala383Thr
ENST00000342421.9:c.1147G>A	ENSP00000341818.5:p.Ala383Thr
ENST00000370616.6:c.1147G>A	ENSP00000359650.2:p.Ala383Thr
ENST00000370618.7:c.1147G>A	ENSP00000359652.4:p.Ala383Thr
ENST00000370621.7:c.1147G>A	ENSP00000359655.3:p.Ala383Thr
ENST00000393380.6:c.1147G>A	ENSP00000377042.2:p.Ala383Thr
ENST00000503581.5:c.1147G>A	ENSP00000424243.1:p.Ala383Thr
NM_001142800.1:c.1147G>A	NP_001136272.1:p.Ala383Thr
NM_001142801.1:c.1147G>A	NP_001136273.1:p.Ala383Thr
NM_001292009.1:c.1147G>A	NP_001278938.1:p.Ala383Thr
NM_198283.1:c.1147G>A	NP_938024.1:p.Ala383Thr
NM_001142800.2:c.1147G>A MANE Select	NP_001136272.1:p.Ala383Thr
NM_001142801.2:c.1147G>A	NP_001136273.1:p.Ala383Thr
NM_001292009.2:c.1147G>A	NP_001278938.1:p.Ala383Thr
NM_198283.2:c.1147G>A	NP_938024.1:p.Ala383Thr