Canonical Allele Identifier: CA1633626626

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230597T= , CM000668.2:g.64230597T=	GRCh38
NC_000006.11:g.64940490T= , CM000668.1:g.64940490T=	GRCh37
NC_000006.10:g.64998449T=	NCBI36
NG_023443.1:g.1481629A=
NG_023443.2:g.1481629A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.6419A= MANE Select	ENSP00000424243.1:p.Glu2140=
ENST00000370616.6:c.6419A=	ENSP00000359650.2:p.Glu2140=
ENST00000370618.7:c.6419A=	ENSP00000359652.4:p.Glu2140=
ENST00000370621.7:c.6419A=	ENSP00000359655.3:p.Glu2140=
ENST00000503581.5:c.6419A=	ENSP00000424243.1:p.Glu2140=
NM_001142800.1:c.6419A=	NP_001136272.1:p.Glu2140=
NM_001292009.1:c.6419A=	NP_001278938.1:p.Glu2140=
NM_001142800.2:c.6419A= MANE Select	NP_001136272.1:p.Glu2140=
NM_001292009.2:c.6419A=	NP_001278938.1:p.Glu2140=