Canonical Allele Identifier: CA364388690

Gene: EYS

Linked Data

• dbSNP Id: rs1338918078
• gnomAD v3: 6-63984500-T-C
• gnomAD v4: 6-63984500-T-C
• MyVariant Identifiers: chr6:g.64694393T>C (hg19) ; chr6:g.63984500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984500T>C , CM000668.2:g.63984500T>C	GRCh38
NC_000006.11:g.64694393T>C , CM000668.1:g.64694393T>C	GRCh37
NC_000006.10:g.64752352T>C	NCBI36
NG_023443.1:g.1727726A>G
NG_023443.2:g.1727726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6938A>G MANE Select	ENSP00000424243.1:p.Gln2313Arg
ENST00000370616.6:c.6938A>G	ENSP00000359650.2:p.Gln2313Arg
ENST00000370618.7:c.6938A>G	ENSP00000359652.4:p.Gln2313Arg
ENST00000370621.7:c.6938A>G	ENSP00000359655.3:p.Gln2313Arg
ENST00000398580.3:c.252A>G
ENST00000503581.5:c.6938A>G	ENSP00000424243.1:p.Gln2313Arg
NM_001142800.1:c.6938A>G	NP_001136272.1:p.Gln2313Arg
NM_001292009.1:c.6938A>G	NP_001278938.1:p.Gln2313Arg
XR_001744188.1:n.606+16216T>C
XR_001744189.1:n.129+16216T>C
XR_001744190.1:n.197+16216T>C
XR_001744191.1:n.607-1154T>C
NM_001142800.2:c.6938A>G MANE Select	NP_001136272.1:p.Gln2313Arg
NM_001292009.2:c.6938A>G	NP_001278938.1:p.Gln2313Arg