Canonical Allele Identifier: CA1633508019

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984583G= , CM000668.2:g.63984583G=	GRCh38
NC_000006.11:g.64694476G= , CM000668.1:g.64694476G=	GRCh37
NC_000006.10:g.64752435G=	NCBI36
NG_023443.1:g.1727643C=
NG_023443.2:g.1727643C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6855C= MANE Select	ENSP00000424243.1:p.Phe2285=
ENST00000370616.6:c.6855C=	ENSP00000359650.2:p.Phe2285=
ENST00000370618.7:c.6855C=	ENSP00000359652.4:p.Phe2285=
ENST00000370621.7:c.6855C=	ENSP00000359655.3:p.Phe2285=
ENST00000398580.3:c.169C=
ENST00000503581.5:c.6855C=	ENSP00000424243.1:p.Phe2285=
NM_001142800.1:c.6855C=	NP_001136272.1:p.Phe2285=
NM_001292009.1:c.6855C=	NP_001278938.1:p.Phe2285=
XR_001744188.1:n.606+16299G=
XR_001744189.1:n.129+16299G=
XR_001744190.1:n.197+16299G=
XR_001744191.1:n.607-1071G=
NM_001142800.2:c.6855C= MANE Select	NP_001136272.1:p.Phe2285=
NM_001292009.2:c.6855C=	NP_001278938.1:p.Phe2285=