Canonical Allele Identifier: CA364385221

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721722A>G , CM000668.2:g.63721722A>G	GRCh38
NC_000006.11:g.64431618A>G , CM000668.1:g.64431618A>G	GRCh37
NC_000006.10:g.64489577A>G	NCBI36
NG_023443.1:g.1990501T>C
NG_023443.2:g.1990504T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.8309T>C (EYS) MANE Select	NP_001136272.1:p.Leu2770Pro
NM_001370348.2:c.*8014A>G (PHF3) MANE Select	NP_001357277.1:n.*8014A>G
ENST00000262043.8:c.*8014A>G (PHF3) MANE Select	ENSP00000262043.4:n.*8014A>G
ENST00000503581.6:c.8309T>C (EYS) MANE Select	ENSP00000424243.1:p.Leu2770Pro
NM_001142800.1:c.8309T>C (EYS)	NP_001136272.1:p.Leu2770Pro
NM_001290259.2:c.*8014A>G (PHF3)	NP_001277188.1:n.*8014A>G
NM_001292009.1:c.8372T>C (EYS)	NP_001278938.1:p.Leu2791Pro
NM_001292009.2:c.8372T>C (EYS)	NP_001278938.1:p.Leu2791Pro
NM_001370349.2:c.*8014A>G (PHF3)	NP_001357278.1:n.*8014A>G
NM_001370350.2:c.*8014A>G (PHF3)	NP_001357279.1:n.*8014A>G
NM_015153.4:c.*8014A>G (PHF3)	NP_055968.1:n.*8014A>G
ENST00000370616.6:c.8372T>C (EYS)	ENSP00000359650.2:p.Leu2791Pro
ENST00000370618.7:c.8309T>C (EYS)	ENSP00000359652.4:p.Leu2770Pro
ENST00000370621.7:c.8372T>C (EYS)	ENSP00000359655.3:p.Leu2791Pro
ENST00000503581.5:c.8309T>C (EYS)	ENSP00000424243.1:p.Leu2770Pro
ENST00000505138.1:c.363+10360A>G (PHF3)