Canonical Allele Identifier: CA1634216004

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65402514G= , CM000668.2:g.65402514G=	GRCh38
NC_000006.11:g.66112407G= , CM000668.1:g.66112407G=	GRCh37
NC_000006.10:g.66169128G=	NCBI36
NG_023443.1:g.309712C=
NG_023443.2:g.309712C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.1148C= MANE Select	ENSP00000424243.1:p.Ala383=
ENST00000342421.9:c.1148C=	ENSP00000341818.5:p.Ala383=
ENST00000370616.6:c.1148C=	ENSP00000359650.2:p.Ala383=
ENST00000370618.7:c.1148C=	ENSP00000359652.4:p.Ala383=
ENST00000370621.7:c.1148C=	ENSP00000359655.3:p.Ala383=
ENST00000393380.6:c.1148C=	ENSP00000377042.2:p.Ala383=
ENST00000503581.5:c.1148C=	ENSP00000424243.1:p.Ala383=
NM_001142800.1:c.1148C=	NP_001136272.1:p.Ala383=
NM_001142801.1:c.1148C=	NP_001136273.1:p.Ala383=
NM_001292009.1:c.1148C=	NP_001278938.1:p.Ala383=
NM_198283.1:c.1148C=	NP_938024.1:p.Ala383=
NM_001142800.2:c.1148C= MANE Select	NP_001136272.1:p.Ala383=
NM_001142801.2:c.1148C=	NP_001136273.1:p.Ala383=
NM_001292009.2:c.1148C=	NP_001278938.1:p.Ala383=
NM_198283.2:c.1148C=	NP_938024.1:p.Ala383=