Canonical Allele Identifier: CA2679283433

Gene: EYS

Linked Data

• gnomAD v4: 6-64230512-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230512T>A , CM000668.2:g.64230512T>A	GRCh38
NC_000006.11:g.64940405T>A , CM000668.1:g.64940405T>A	GRCh37
NC_000006.10:g.64998364T>A	NCBI36
NG_023443.1:g.1481714A>T
NG_023443.2:g.1481714A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6424+80A>T MANE Select	ENSP00000424243.1:n.6424+80A>T
ENST00000370616.6:c.6424+80A>T	ENSP00000359650.2:n.6424+80A>T
ENST00000370618.7:c.6424+80A>T	ENSP00000359652.4:n.6424+80A>T
ENST00000370621.7:c.6424+80A>T	ENSP00000359655.3:n.6424+80A>T
ENST00000503581.5:c.6424+80A>T	ENSP00000424243.1:n.6424+80A>T
NM_001142800.1:c.6424+80A>T	NP_001136272.1:n.6424+80A>T
NM_001292009.1:c.6424+80A>T	NP_001278938.1:n.6424+80A>T
NM_001142800.2:c.6424+80A>T MANE Select	NP_001136272.1:n.6424+80A>T
NM_001292009.2:c.6424+80A>T	NP_001278938.1:n.6424+80A>T