Canonical Allele Identifier: CA450862426

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 2808696
• ClinVar RCV Id: RCV003677099
• MyVariant Identifiers: chr6:g.64431488A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721592A>G , CM000668.2:g.63721592A>G	GRCh38
NC_000006.11:g.64431488A>G , CM000668.1:g.64431488A>G	GRCh37
NC_000006.10:g.64489447A>G	NCBI36
NG_023443.1:g.1990631T>C
NG_023443.2:g.1990634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7884A>G (PHF3) MANE Select	ENSP00000262043.4:n.*7884A>G
ENST00000503581.6:c.8439T>C (EYS) MANE Select	ENSP00000424243.1:p.Ser2813=
ENST00000370616.6:c.8502T>C (EYS)	ENSP00000359650.2:p.Ser2834=
ENST00000370618.7:c.8439T>C (EYS)	ENSP00000359652.4:p.Ser2813=
ENST00000370621.7:c.8502T>C (EYS)	ENSP00000359655.3:p.Ser2834=
ENST00000503581.5:c.8439T>C (EYS)	ENSP00000424243.1:p.Ser2813=
ENST00000505138.1:c.363+10230A>G (PHF3)
NM_001142800.1:c.8439T>C (EYS)	NP_001136272.1:p.Ser2813=
NM_001292009.1:c.8502T>C (EYS)	NP_001278938.1:p.Ser2834=
NM_001142800.2:c.8439T>C (EYS) MANE Select	NP_001136272.1:p.Ser2813=
NM_001290259.2:c.*7884A>G (PHF3)	NP_001277188.1:n.*7884A>G
NM_001370348.2:c.*7884A>G (PHF3) MANE Select	NP_001357277.1:n.*7884A>G
NM_001370349.2:c.*7884A>G (PHF3)	NP_001357278.1:n.*7884A>G
NM_001370350.2:c.*7884A>G (PHF3)	NP_001357279.1:n.*7884A>G
NM_015153.4:c.*7884A>G (PHF3)	NP_055968.1:n.*7884A>G
NM_001292009.2:c.8502T>C (EYS)	NP_001278938.1:p.Ser2834=