Canonical Allele Identifier: CA1089830916

Gene: EYS

Linked Data

• dbSNP Id: rs974481688
• gnomAD v3: 6-64230550-G-A
• gnomAD v4: 6-64230550-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230550G>A , CM000668.2:g.64230550G>A	GRCh38
NC_000006.11:g.64940443G>A , CM000668.1:g.64940443G>A	GRCh37
NC_000006.10:g.64998402G>A	NCBI36
NG_023443.1:g.1481676C>T
NG_023443.2:g.1481676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6424+42C>T MANE Select	ENSP00000424243.1:n.6424+42C>T
ENST00000370616.6:c.6424+42C>T	ENSP00000359650.2:n.6424+42C>T
ENST00000370618.7:c.6424+42C>T	ENSP00000359652.4:n.6424+42C>T
ENST00000370621.7:c.6424+42C>T	ENSP00000359655.3:n.6424+42C>T
ENST00000503581.5:c.6424+42C>T	ENSP00000424243.1:n.6424+42C>T
NM_001142800.1:c.6424+42C>T	NP_001136272.1:n.6424+42C>T
NM_001292009.1:c.6424+42C>T	NP_001278938.1:n.6424+42C>T
NM_001142800.2:c.6424+42C>T MANE Select	NP_001136272.1:n.6424+42C>T
NM_001292009.2:c.6424+42C>T	NP_001278938.1:n.6424+42C>T