Canonical Allele Identifier: CA364389003

Gene: EYS

Linked Data

• gnomAD v4: 6-63984567-C-T
• MyVariant Identifiers: chr6:g.64694460C>T (hg19) ; chr6:g.63984567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984567C>T , CM000668.2:g.63984567C>T	GRCh38
NC_000006.11:g.64694460C>T , CM000668.1:g.64694460C>T	GRCh37
NC_000006.10:g.64752419C>T	NCBI36
NG_023443.1:g.1727659G>A
NG_023443.2:g.1727659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6871G>A MANE Select	ENSP00000424243.1:p.Ala2291Thr
ENST00000370616.6:c.6871G>A	ENSP00000359650.2:p.Ala2291Thr
ENST00000370618.7:c.6871G>A	ENSP00000359652.4:p.Ala2291Thr
ENST00000370621.7:c.6871G>A	ENSP00000359655.3:p.Ala2291Thr
ENST00000398580.3:c.185G>A
ENST00000503581.5:c.6871G>A	ENSP00000424243.1:p.Ala2291Thr
NM_001142800.1:c.6871G>A	NP_001136272.1:p.Ala2291Thr
NM_001292009.1:c.6871G>A	NP_001278938.1:p.Ala2291Thr
XR_001744188.1:n.606+16283C>T
XR_001744189.1:n.129+16283C>T
XR_001744190.1:n.197+16283C>T
XR_001744191.1:n.607-1087C>T
NM_001142800.2:c.6871G>A MANE Select	NP_001136272.1:p.Ala2291Thr
NM_001292009.2:c.6871G>A	NP_001278938.1:p.Ala2291Thr