Canonical Allele Identifier: CA242183

Gene: EYS

Linked Data

• ClinVar Variation Id: 195666
• ClinVar RCV Id: RCV000176282 ; RCV000673072 ; RCV001075858 ; RCV001277985 ; RCV003422070
• dbSNP Id: rs778646190
• ExAC: 6:65523464 T / G
• gnomAD v2: 6-65523464-T-G
• gnomAD v3: 6-64813571-T-G
• gnomAD v4: 6-64813571-T-G
• MyVariant Identifiers: chr6:g.65523464T>G (hg19) ; chr6:g.64813571T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64813571T>G , CM000668.2:g.64813571T>G	GRCh38
NC_000006.11:g.65523464T>G , CM000668.1:g.65523464T>G	GRCh37
NC_000006.10:g.65580185T>G	NCBI36
NG_023443.1:g.898655A>C
NG_023443.2:g.898655A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.3250A>C MANE Select	ENSP00000424243.1:p.Thr1084Pro
ENST00000370616.6:c.3250A>C	ENSP00000359650.2:p.Thr1084Pro
ENST00000370618.7:c.3250A>C	ENSP00000359652.4:p.Thr1084Pro
ENST00000370621.7:c.3250A>C	ENSP00000359655.3:p.Thr1084Pro
ENST00000503581.5:c.3250A>C	ENSP00000424243.1:p.Thr1084Pro
NM_001142800.1:c.3250A>C	NP_001136272.1:p.Thr1084Pro
NM_001292009.1:c.3250A>C	NP_001278938.1:p.Thr1084Pro
NM_001142800.2:c.3250A>C MANE Select	NP_001136272.1:p.Thr1084Pro
NM_001292009.2:c.3250A>C	NP_001278938.1:p.Thr1084Pro