Canonical Allele Identifier: CA3876666

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720617A>C , CM000668.2:g.63720617A>C	GRCh38
NC_000006.11:g.64430513A>C , CM000668.1:g.64430513A>C	GRCh37
NC_000006.10:g.64488472A>C	NCBI36
NG_023443.1:g.1991606T>G
NG_023443.2:g.1991609T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.9414T>G (EYS) MANE Select	NP_001136272.1:p.Asp3138Glu
NM_001370348.2:c.*6909A>C (PHF3) MANE Select	NP_001357277.1:n.*6909A>C
ENST00000262043.8:c.*6909A>C (PHF3) MANE Select	ENSP00000262043.4:n.*6909A>C
ENST00000503581.6:c.9414T>G (EYS) MANE Select	ENSP00000424243.1:p.Asp3138Glu
NM_001142800.1:c.9414T>G (EYS)	NP_001136272.1:p.Asp3138Glu
NM_001290259.2:c.*6909A>C (PHF3)	NP_001277188.1:n.*6909A>C
NM_001292009.1:c.9477T>G (EYS)	NP_001278938.1:p.Asp3159Glu
NM_001292009.2:c.9477T>G (EYS)	NP_001278938.1:p.Asp3159Glu
NM_001370349.2:c.*6909A>C (PHF3)	NP_001357278.1:n.*6909A>C
NM_001370350.2:c.*6909A>C (PHF3)	NP_001357279.1:n.*6909A>C
NM_015153.4:c.*6909A>C (PHF3)	NP_055968.1:n.*6909A>C
ENST00000370616.6:c.9477T>G (EYS)	ENSP00000359650.2:p.Asp3159Glu
ENST00000370618.7:c.9414T>G (EYS)	ENSP00000359652.4:p.Asp3138Glu
ENST00000370621.7:c.9477T>G (EYS)	ENSP00000359655.3:p.Asp3159Glu
ENST00000503581.5:c.9414T>G (EYS)	ENSP00000424243.1:p.Asp3138Glu
ENST00000505138.1:c.363+9255A>C (PHF3)