Canonical Allele Identifier: CA450758778

Gene: EYS

Linked Data

• gnomAD v4: 6-64230644-C-A
• MyVariant Identifiers: chr6:g.64940537C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230644C>A , CM000668.2:g.64230644C>A	GRCh38
NC_000006.11:g.64940537C>A , CM000668.1:g.64940537C>A	GRCh37
NC_000006.10:g.64998496C>A	NCBI36
NG_023443.1:g.1481582G>T
NG_023443.2:g.1481582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6372G>T MANE Select	ENSP00000424243.1:p.Val2124=
ENST00000370616.6:c.6372G>T	ENSP00000359650.2:p.Val2124=
ENST00000370618.7:c.6372G>T	ENSP00000359652.4:p.Val2124=
ENST00000370621.7:c.6372G>T	ENSP00000359655.3:p.Val2124=
ENST00000503581.5:c.6372G>T	ENSP00000424243.1:p.Val2124=
NM_001142800.1:c.6372G>T	NP_001136272.1:p.Val2124=
NM_001292009.1:c.6372G>T	NP_001278938.1:p.Val2124=
NM_001142800.2:c.6372G>T MANE Select	NP_001136272.1:p.Val2124=
NM_001292009.2:c.6372G>T	NP_001278938.1:p.Val2124=