Canonical Allele Identifier: CA3877846

Gene: EYS

Linked Data

• ClinVar Variation Id: 357743
• ClinVar RCV Id: RCV000292057 ; RCV000611732 ; RCV001509797
• dbSNP Id: rs182780299
• ExAC: 6:66112357 A / G
• gnomAD v2: 6-66112357-A-G
• gnomAD v3: 6-65402464-A-G
• gnomAD v4: 6-65402464-A-G
• MyVariant Identifiers: chr6:g.66112357A>G (hg19) ; chr6:g.65402464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65402464A>G , CM000668.2:g.65402464A>G	GRCh38
NC_000006.11:g.66112357A>G , CM000668.1:g.66112357A>G	GRCh37
NC_000006.10:g.66169078A>G	NCBI36
NG_023443.1:g.309762T>C
NG_023443.2:g.309762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.1184+14T>C MANE Select	ENSP00000424243.1:n.1184+14T>C
ENST00000342421.9:c.1184+14T>C	ENSP00000341818.5:n.1184+14T>C
ENST00000370616.6:c.1184+14T>C	ENSP00000359650.2:n.1184+14T>C
ENST00000370618.7:c.1184+14T>C	ENSP00000359652.4:n.1184+14T>C
ENST00000370621.7:c.1184+14T>C	ENSP00000359655.3:n.1184+14T>C
ENST00000393380.6:c.1184+14T>C	ENSP00000377042.2:n.1184+14T>C
ENST00000503581.5:c.1184+14T>C	ENSP00000424243.1:n.1184+14T>C
NM_001142800.1:c.1184+14T>C	NP_001136272.1:n.1184+14T>C
NM_001142801.1:c.1184+14T>C	NP_001136273.1:n.1184+14T>C
NM_001292009.1:c.1184+14T>C	NP_001278938.1:n.1184+14T>C
NM_198283.1:c.1184+14T>C	NP_938024.1:n.1184+14T>C
NM_001142800.2:c.1184+14T>C MANE Select	NP_001136272.1:n.1184+14T>C
NM_001142801.2:c.1184+14T>C	NP_001136273.1:n.1184+14T>C
NM_001292009.2:c.1184+14T>C	NP_001278938.1:n.1184+14T>C
NM_198283.2:c.1184+14T>C	NP_938024.1:n.1184+14T>C