Canonical Allele Identifier: CA2679301667

Gene: EYS

Linked Data

• gnomAD v4: 6-64081806-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64081806C>G , CM000668.2:g.64081806C>G	GRCh38
NC_000006.11:g.64791699C>G , CM000668.1:g.64791699C>G	GRCh37
NC_000006.10:g.64849658C>G	NCBI36
NG_023443.1:g.1630420G>C
NG_023443.2:g.1630420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6571+50G>C MANE Select	ENSP00000424243.1:n.6571+50G>C
ENST00000370616.6:c.6571+50G>C	ENSP00000359650.2:n.6571+50G>C
ENST00000370618.7:c.6571+50G>C	ENSP00000359652.4:n.6571+50G>C
ENST00000370621.7:c.6571+50G>C	ENSP00000359655.3:n.6571+50G>C
ENST00000503581.5:c.6571+50G>C	ENSP00000424243.1:n.6571+50G>C
NM_001142800.1:c.6571+50G>C	NP_001136272.1:n.6571+50G>C
NM_001292009.1:c.6571+50G>C	NP_001278938.1:n.6571+50G>C
NM_001142800.2:c.6571+50G>C MANE Select	NP_001136272.1:n.6571+50G>C
NM_001292009.2:c.6571+50G>C	NP_001278938.1:n.6571+50G>C