Canonical Allele Identifier: CA364389000

Gene: EYS

Linked Data

• gnomAD v4: 6-63984566-G-A
• MyVariant Identifiers: chr6:g.64694459G>A (hg19) ; chr6:g.63984566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984566G>A , CM000668.2:g.63984566G>A	GRCh38
NC_000006.11:g.64694459G>A , CM000668.1:g.64694459G>A	GRCh37
NC_000006.10:g.64752418G>A	NCBI36
NG_023443.1:g.1727660C>T
NG_023443.2:g.1727660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6872C>T MANE Select	ENSP00000424243.1:p.Ala2291Val
ENST00000370616.6:c.6872C>T	ENSP00000359650.2:p.Ala2291Val
ENST00000370618.7:c.6872C>T	ENSP00000359652.4:p.Ala2291Val
ENST00000370621.7:c.6872C>T	ENSP00000359655.3:p.Ala2291Val
ENST00000398580.3:c.186C>T
ENST00000503581.5:c.6872C>T	ENSP00000424243.1:p.Ala2291Val
NM_001142800.1:c.6872C>T	NP_001136272.1:p.Ala2291Val
NM_001292009.1:c.6872C>T	NP_001278938.1:p.Ala2291Val
XR_001744188.1:n.606+16282G>A
XR_001744189.1:n.129+16282G>A
XR_001744190.1:n.197+16282G>A
XR_001744191.1:n.607-1088G>A
NM_001142800.2:c.6872C>T MANE Select	NP_001136272.1:p.Ala2291Val
NM_001292009.2:c.6872C>T	NP_001278938.1:p.Ala2291Val