Canonical Allele Identifier: CA3877071

Gene: EYS

Linked Data

• ClinVar Variation Id: 357711
• ClinVar RCV Id: RCV000390985 ; RCV000625443 ; RCV000935259 ; RCV001699391 ; RCV001274976
• dbSNP Id: rs772339340
• ExAC: 6:65301206 T / G
• gnomAD v2: 6-65301206-T-G
• gnomAD v3: 6-64591313-T-G
• gnomAD v4: 6-64591313-T-G
• MyVariant Identifiers: chr6:g.65301206T>G (hg19) ; chr6:g.64591313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64591313T>G , CM000668.2:g.64591313T>G	GRCh38
NC_000006.11:g.65301206T>G , CM000668.1:g.65301206T>G	GRCh37
NC_000006.10:g.65357927T>G	NCBI36
NG_023443.1:g.1120913A>C
NG_023443.2:g.1120913A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.4554A>C MANE Select	ENSP00000424243.1:p.Thr1518=
ENST00000370616.6:c.4554A>C	ENSP00000359650.2:p.Thr1518=
ENST00000370618.7:c.4554A>C	ENSP00000359652.4:p.Thr1518=
ENST00000370621.7:c.4554A>C	ENSP00000359655.3:p.Thr1518=
ENST00000503581.5:c.4554A>C	ENSP00000424243.1:p.Thr1518=
NM_001142800.1:c.4554A>C	NP_001136272.1:p.Thr1518=
NM_001292009.1:c.4554A>C	NP_001278938.1:p.Thr1518=
NM_001142800.2:c.4554A>C MANE Select	NP_001136272.1:p.Thr1518=
NM_001292009.2:c.4554A>C	NP_001278938.1:p.Thr1518=