Canonical Allele Identifier: CA364783247

Gene: EYS

Linked Data

• ClinVar Variation Id: 1989867
• ClinVar RCV Id: RCV002786725
• gnomAD v4: 6-64591394-C-T
• MyVariant Identifiers: chr6:g.65301287C>T (hg19) ; chr6:g.64591394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64591394C>T , CM000668.2:g.64591394C>T	GRCh38
NC_000006.11:g.65301287C>T , CM000668.1:g.65301287C>T	GRCh37
NC_000006.10:g.65358008C>T	NCBI36
NG_023443.1:g.1120832G>A
NG_023443.2:g.1120832G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.4473G>A MANE Select	ENSP00000424243.1:p.Met1491Ile
ENST00000370616.6:c.4473G>A	ENSP00000359650.2:p.Met1491Ile
ENST00000370618.7:c.4473G>A	ENSP00000359652.4:p.Met1491Ile
ENST00000370621.7:c.4473G>A	ENSP00000359655.3:p.Met1491Ile
ENST00000503581.5:c.4473G>A	ENSP00000424243.1:p.Met1491Ile
NM_001142800.1:c.4473G>A	NP_001136272.1:p.Met1491Ile
NM_001292009.1:c.4473G>A	NP_001278938.1:p.Met1491Ile
NM_001142800.2:c.4473G>A MANE Select	NP_001136272.1:p.Met1491Ile
NM_001292009.2:c.4473G>A	NP_001278938.1:p.Met1491Ile