Canonical Allele Identifier: CA1633404418

Gene: EYS PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63762613C= , CM000668.2:g.63762613C=	GRCh38
NC_000006.11:g.64472506C= , CM000668.1:g.64472506C=	GRCh37
NC_000006.10:g.64530465C=	NCBI36
NG_023443.1:g.1949613G=
NG_023443.2:g.1949613G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7919G= (EYS) MANE Select	ENSP00000424243.1:p.Trp2640=
ENST00000370616.6:c.7919G= (EYS)	ENSP00000359650.2:p.Trp2640=
ENST00000370618.7:c.7919G= (EYS)	ENSP00000359652.4:p.Trp2640=
ENST00000370621.7:c.7919G= (EYS)	ENSP00000359655.3:p.Trp2640=
ENST00000398580.3:c.1233G= (EYS)
ENST00000503581.5:c.7919G= (EYS)	ENSP00000424243.1:p.Trp2640=
ENST00000505138.1:c.364-15453C= (PHF3)
NM_001142800.1:c.7919G= (EYS)	NP_001136272.1:p.Trp2640=
NM_001292009.1:c.7919G= (EYS)	NP_001278938.1:p.Trp2640=
NM_001142800.2:c.7919G= (EYS) MANE Select	NP_001136272.1:p.Trp2640=
NM_001292009.2:c.7919G= (EYS)	NP_001278938.1:p.Trp2640=