Canonical Allele Identifier: CA567706830

Gene: EYS

Linked Data

• dbSNP Id: rs1169184275
• gnomAD v2: 6-64694512-C-A
• gnomAD v4: 6-63984619-C-A
• MyVariant Identifiers: chr6:g.64694512C>A (hg19) ; chr6:g.63984619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984619C>A , CM000668.2:g.63984619C>A	GRCh38
NC_000006.11:g.64694512C>A , CM000668.1:g.64694512C>A	GRCh37
NC_000006.10:g.64752471C>A	NCBI36
NG_023443.1:g.1727607G>T
NG_023443.2:g.1727607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-16G>T MANE Select	ENSP00000424243.1:n.6835-16G>T
ENST00000370616.6:c.6835-16G>T	ENSP00000359650.2:n.6835-16G>T
ENST00000370618.7:c.6835-16G>T	ENSP00000359652.4:n.6835-16G>T
ENST00000370621.7:c.6835-16G>T	ENSP00000359655.3:n.6835-16G>T
ENST00000398580.3:c.149-16G>T
ENST00000503581.5:c.6835-16G>T	ENSP00000424243.1:n.6835-16G>T
NM_001142800.1:c.6835-16G>T	NP_001136272.1:n.6835-16G>T
NM_001292009.1:c.6835-16G>T	NP_001278938.1:n.6835-16G>T
XR_001744188.1:n.606+16335C>A
XR_001744189.1:n.129+16335C>A
XR_001744190.1:n.197+16335C>A
XR_001744191.1:n.607-1035C>A
NM_001142800.2:c.6835-16G>T MANE Select	NP_001136272.1:n.6835-16G>T
NM_001292009.2:c.6835-16G>T	NP_001278938.1:n.6835-16G>T