Canonical Allele Identifier: CA3876920

Gene: EYS

Linked Data

• dbSNP Id: rs530767412
• ExAC: 6:64940438 G / C
• gnomAD v2: 6-64940438-G-C
• gnomAD v3: 6-64230545-G-C
• gnomAD v4: 6-64230545-G-C
• MyVariant Identifiers: chr6:g.64940438G>C (hg19) ; chr6:g.64230545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230545G>C , CM000668.2:g.64230545G>C	GRCh38
NC_000006.11:g.64940438G>C , CM000668.1:g.64940438G>C	GRCh37
NC_000006.10:g.64998397G>C	NCBI36
NG_023443.1:g.1481681C>G
NG_023443.2:g.1481681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6424+47C>G MANE Select	ENSP00000424243.1:n.6424+47C>G
ENST00000370616.6:c.6424+47C>G	ENSP00000359650.2:n.6424+47C>G
ENST00000370618.7:c.6424+47C>G	ENSP00000359652.4:n.6424+47C>G
ENST00000370621.7:c.6424+47C>G	ENSP00000359655.3:n.6424+47C>G
ENST00000503581.5:c.6424+47C>G	ENSP00000424243.1:n.6424+47C>G
NM_001142800.1:c.6424+47C>G	NP_001136272.1:n.6424+47C>G
NM_001292009.1:c.6424+47C>G	NP_001278938.1:n.6424+47C>G
NM_001142800.2:c.6424+47C>G MANE Select	NP_001136272.1:n.6424+47C>G
NM_001292009.2:c.6424+47C>G	NP_001278938.1:n.6424+47C>G