Canonical Allele Identifier: CA364385300

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721753G>A , CM000668.2:g.63721753G>A	GRCh38
NC_000006.11:g.64431649G>A , CM000668.1:g.64431649G>A	GRCh37
NC_000006.10:g.64489608G>A	NCBI36
NG_023443.1:g.1990470C>T
NG_023443.2:g.1990473C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.8278C>T (EYS) MANE Select	NP_001136272.1:p.Arg2760Cys
NM_001370348.2:c.*8045G>A (PHF3) MANE Select	NP_001357277.1:n.*8045G>A
ENST00000262043.8:c.*8045G>A (PHF3) MANE Select	ENSP00000262043.4:n.*8045G>A
ENST00000503581.6:c.8278C>T (EYS) MANE Select	ENSP00000424243.1:p.Arg2760Cys
NM_001142800.1:c.8278C>T (EYS)	NP_001136272.1:p.Arg2760Cys
NM_001290259.2:c.*8045G>A (PHF3)	NP_001277188.1:n.*8045G>A
NM_001292009.1:c.8341C>T (EYS)	NP_001278938.1:p.Arg2781Cys
NM_001292009.2:c.8341C>T (EYS)	NP_001278938.1:p.Arg2781Cys
NM_001370349.2:c.*8045G>A (PHF3)	NP_001357278.1:n.*8045G>A
NM_001370350.2:c.*8045G>A (PHF3)	NP_001357279.1:n.*8045G>A
NM_015153.4:c.*8045G>A (PHF3)	NP_055968.1:n.*8045G>A
ENST00000370616.6:c.8341C>T (EYS)	ENSP00000359650.2:p.Arg2781Cys
ENST00000370618.7:c.8278C>T (EYS)	ENSP00000359652.4:p.Arg2760Cys
ENST00000370621.7:c.8341C>T (EYS)	ENSP00000359655.3:p.Arg2781Cys
ENST00000503581.5:c.8278C>T (EYS)	ENSP00000424243.1:p.Arg2760Cys
ENST00000505138.1:c.363+10391G>A (PHF3)