Canonical Allele Identifier: CA3877110

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64591821C>T , CM000668.2:g.64591821C>T	GRCh38
NC_000006.11:g.65301714C>T , CM000668.1:g.65301714C>T	GRCh37
NC_000006.10:g.65358435C>T	NCBI36
NG_023443.1:g.1120405G>A
NG_023443.2:g.1120405G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.4046G>A MANE Select	NP_001136272.1:p.Arg1349Gln
ENST00000503581.6:c.4046G>A MANE Select	ENSP00000424243.1:p.Arg1349Gln
NM_001142800.1:c.4046G>A	NP_001136272.1:p.Arg1349Gln
NM_001292009.1:c.4046G>A	NP_001278938.1:p.Arg1349Gln
NM_001292009.2:c.4046G>A	NP_001278938.1:p.Arg1349Gln
ENST00000370616.6:c.4046G>A	ENSP00000359650.2:p.Arg1349Gln
ENST00000370618.7:c.4046G>A	ENSP00000359652.4:p.Arg1349Gln
ENST00000370621.7:c.4046G>A	ENSP00000359655.3:p.Arg1349Gln
ENST00000503581.5:c.4046G>A	ENSP00000424243.1:p.Arg1349Gln