Canonical Allele Identifier: CA1633507984

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984504G= , CM000668.2:g.63984504G=	GRCh38
NC_000006.11:g.64694397G= , CM000668.1:g.64694397G=	GRCh37
NC_000006.10:g.64752356G=	NCBI36
NG_023443.1:g.1727722C=
NG_023443.2:g.1727722C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6934C= MANE Select	ENSP00000424243.1:p.Leu2312=
ENST00000370616.6:c.6934C=	ENSP00000359650.2:p.Leu2312=
ENST00000370618.7:c.6934C=	ENSP00000359652.4:p.Leu2312=
ENST00000370621.7:c.6934C=	ENSP00000359655.3:p.Leu2312=
ENST00000398580.3:c.248C=
ENST00000503581.5:c.6934C=	ENSP00000424243.1:p.Leu2312=
NM_001142800.1:c.6934C=	NP_001136272.1:p.Leu2312=
NM_001292009.1:c.6934C=	NP_001278938.1:p.Leu2312=
XR_001744188.1:n.606+16220G=
XR_001744189.1:n.129+16220G=
XR_001744190.1:n.197+16220G=
XR_001744191.1:n.607-1150G=
NM_001142800.2:c.6934C= MANE Select	NP_001136272.1:p.Leu2312=
NM_001292009.2:c.6934C=	NP_001278938.1:p.Leu2312=