Canonical Allele Identifier: CA2679298350

Gene: EYS

Linked Data

• gnomAD v4: 6-63788280-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788280A>G , CM000668.2:g.63788280A>G	GRCh38
NC_000006.11:g.64498173A>G , CM000668.1:g.64498173A>G	GRCh37
NC_000006.10:g.64556132A>G	NCBI36
NG_023443.1:g.1923946T>C
NG_023443.2:g.1923946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-31T>C MANE Select	ENSP00000424243.1:n.7579-31T>C
ENST00000370616.6:c.7579-31T>C	ENSP00000359650.2:n.7579-31T>C
ENST00000370618.7:c.7579-31T>C	ENSP00000359652.4:n.7579-31T>C
ENST00000370621.7:c.7579-31T>C	ENSP00000359655.3:n.7579-31T>C
ENST00000398580.3:c.893-31T>C
ENST00000486069.1:n.219-31T>C
ENST00000503581.5:c.7579-31T>C	ENSP00000424243.1:n.7579-31T>C
NM_001142800.1:c.7579-31T>C	NP_001136272.1:n.7579-31T>C
NM_001292009.1:c.7579-31T>C	NP_001278938.1:n.7579-31T>C
NM_001142800.2:c.7579-31T>C MANE Select	NP_001136272.1:n.7579-31T>C
NM_001292009.2:c.7579-31T>C	NP_001278938.1:n.7579-31T>C