Canonical Allele Identifier: CA140268544

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63999087G>T , CM000668.2:g.63999087G>T	GRCh38
NC_000006.11:g.64708980G>T , CM000668.1:g.64708980G>T	GRCh37
NC_000006.10:g.64766939G>T	NCBI36
NG_023443.1:g.1713139C>A
NG_023443.2:g.1713139C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.6822C>A MANE Select	NP_001136272.1:p.Ser2274=
ENST00000503581.6:c.6822C>A MANE Select	ENSP00000424243.1:p.Ser2274=
NM_001142800.1:c.6822C>A	NP_001136272.1:p.Ser2274=
NM_001292009.1:c.6822C>A	NP_001278938.1:p.Ser2274=
NM_001292009.2:c.6822C>A	NP_001278938.1:p.Ser2274=
ENST00000370616.6:c.6822C>A	ENSP00000359650.2:p.Ser2274=
ENST00000370618.7:c.6822C>A	ENSP00000359652.4:p.Ser2274=
ENST00000370621.7:c.6822C>A	ENSP00000359655.3:p.Ser2274=
ENST00000398580.3:c.136C>A
ENST00000503581.5:c.6822C>A	ENSP00000424243.1:p.Ser2274=
XR_001744188.1:n.607-22300G>T
XR_001744189.1:n.130-22300G>T
XR_001744190.1:n.198-22300G>T