Canonical Allele Identifier: CA2679282343

Gene: EYS

Linked Data

• gnomAD v4: 6-63984645-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984645C>A , CM000668.2:g.63984645C>A	GRCh38
NC_000006.11:g.64694538C>A , CM000668.1:g.64694538C>A	GRCh37
NC_000006.10:g.64752497C>A	NCBI36
NG_023443.1:g.1727581G>T
NG_023443.2:g.1727581G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-42G>T MANE Select	ENSP00000424243.1:n.6835-42G>T
ENST00000370616.6:c.6835-42G>T	ENSP00000359650.2:n.6835-42G>T
ENST00000370618.7:c.6835-42G>T	ENSP00000359652.4:n.6835-42G>T
ENST00000370621.7:c.6835-42G>T	ENSP00000359655.3:n.6835-42G>T
ENST00000398580.3:c.149-42G>T
ENST00000503581.5:c.6835-42G>T	ENSP00000424243.1:n.6835-42G>T
NM_001142800.1:c.6835-42G>T	NP_001136272.1:n.6835-42G>T
NM_001292009.1:c.6835-42G>T	NP_001278938.1:n.6835-42G>T
XR_001744188.1:n.606+16361C>A
XR_001744189.1:n.129+16361C>A
XR_001744190.1:n.197+16361C>A
XR_001744191.1:n.607-1009C>A
NM_001142800.2:c.6835-42G>T MANE Select	NP_001136272.1:n.6835-42G>T
NM_001292009.2:c.6835-42G>T	NP_001278938.1:n.6835-42G>T