Canonical Allele Identifier: CA3876792

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788219C>T , CM000668.2:g.63788219C>T	GRCh38
NC_000006.11:g.64498112C>T , CM000668.1:g.64498112C>T	GRCh37
NC_000006.10:g.64556071C>T	NCBI36
NG_023443.1:g.1924007G>A
NG_023443.2:g.1924007G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.7609G>A MANE Select	NP_001136272.1:p.Ala2537Thr
ENST00000503581.6:c.7609G>A MANE Select	ENSP00000424243.1:p.Ala2537Thr
NM_001142800.1:c.7609G>A	NP_001136272.1:p.Ala2537Thr
NM_001292009.1:c.7609G>A	NP_001278938.1:p.Ala2537Thr
NM_001292009.2:c.7609G>A	NP_001278938.1:p.Ala2537Thr
ENST00000370616.6:c.7609G>A	ENSP00000359650.2:p.Ala2537Thr
ENST00000370618.7:c.7609G>A	ENSP00000359652.4:p.Ala2537Thr
ENST00000370621.7:c.7609G>A	ENSP00000359655.3:p.Ala2537Thr
ENST00000398580.3:c.923G>A
ENST00000486069.1:n.249G>A
ENST00000503581.5:c.7609G>A	ENSP00000424243.1:p.Ala2537Thr