Canonical Allele Identifier: CA568119121

Gene: EYS

Linked Data

• dbSNP Id: rs993116227
• gnomAD v2: 6-64940744-C-T
• gnomAD v4: 6-64230851-C-T
• MyVariant Identifiers: chr6:g.64940744C>T (hg19) ; chr6:g.64230851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230851C>T , CM000668.2:g.64230851C>T	GRCh38
NC_000006.11:g.64940744C>T , CM000668.1:g.64940744C>T	GRCh37
NC_000006.10:g.64998703C>T	NCBI36
NG_023443.1:g.1481375G>A
NG_023443.2:g.1481375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-27G>A MANE Select	ENSP00000424243.1:n.6192-27G>A
ENST00000370616.6:c.6192-27G>A	ENSP00000359650.2:n.6192-27G>A
ENST00000370618.7:c.6192-27G>A	ENSP00000359652.4:n.6192-27G>A
ENST00000370621.7:c.6192-27G>A	ENSP00000359655.3:n.6192-27G>A
ENST00000503581.5:c.6192-27G>A	ENSP00000424243.1:n.6192-27G>A
NM_001142800.1:c.6192-27G>A	NP_001136272.1:n.6192-27G>A
NM_001292009.1:c.6192-27G>A	NP_001278938.1:n.6192-27G>A
NM_001142800.2:c.6192-27G>A MANE Select	NP_001136272.1:n.6192-27G>A
NM_001292009.2:c.6192-27G>A	NP_001278938.1:n.6192-27G>A