Canonical Allele Identifier: CA827017431

Gene: EYS

Linked Data

• dbSNP Id: rs1343067455
• gnomAD v3: 6-64081810-T-G
• gnomAD v4: 6-64081810-T-G
• MyVariant Identifiers: chr6:g.64791703T>G (hg19) ; chr6:g.64081810T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64081810T>G , CM000668.2:g.64081810T>G	GRCh38
NC_000006.11:g.64791703T>G , CM000668.1:g.64791703T>G	GRCh37
NC_000006.10:g.64849662T>G	NCBI36
NG_023443.1:g.1630416A>C
NG_023443.2:g.1630416A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.6571+46A>C MANE Select	ENSP00000424243.1:n.6571+46A>C
ENST00000370616.6:c.6571+46A>C	ENSP00000359650.2:n.6571+46A>C
ENST00000370618.7:c.6571+46A>C	ENSP00000359652.4:n.6571+46A>C
ENST00000370621.7:c.6571+46A>C	ENSP00000359655.3:n.6571+46A>C
ENST00000503581.5:c.6571+46A>C	ENSP00000424243.1:n.6571+46A>C
NM_001142800.1:c.6571+46A>C	NP_001136272.1:n.6571+46A>C
NM_001292009.1:c.6571+46A>C	NP_001278938.1:n.6571+46A>C
NM_001142800.2:c.6571+46A>C MANE Select	NP_001136272.1:n.6571+46A>C
NM_001292009.2:c.6571+46A>C	NP_001278938.1:n.6571+46A>C