Canonical Allele Identifier: CA147138

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64591786T>C , CM000668.2:g.64591786T>C	GRCh38
NC_000006.11:g.65301679T>C , CM000668.1:g.65301679T>C	GRCh37
NC_000006.10:g.65358400T>C	NCBI36
NG_023443.1:g.1120440A>G
NG_023443.2:g.1120440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.4081A>G MANE Select	ENSP00000424243.1:p.Ile1361Val
ENST00000370616.6:c.4081A>G	ENSP00000359650.2:p.Ile1361Val
ENST00000370618.7:c.4081A>G	ENSP00000359652.4:p.Ile1361Val
ENST00000370621.7:c.4081A>G	ENSP00000359655.3:p.Ile1361Val
ENST00000503581.5:c.4081A>G	ENSP00000424243.1:p.Ile1361Val
NM_001142800.1:c.4081A>G	NP_001136272.1:p.Ile1361Val
NM_001292009.1:c.4081A>G	NP_001278938.1:p.Ile1361Val
NM_001142800.2:c.4081A>G MANE Select	NP_001136272.1:p.Ile1361Val
NM_001292009.2:c.4081A>G	NP_001278938.1:p.Ile1361Val