Canonical Allele Identifier: CA364382796

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720730G>A , CM000668.2:g.63720730G>A	GRCh38
NC_000006.11:g.64430626G>A , CM000668.1:g.64430626G>A	GRCh37
NC_000006.10:g.64488585G>A	NCBI36
NG_023443.1:g.1991493C>T
NG_023443.2:g.1991496C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.9301C>T (EYS) MANE Select	NP_001136272.1:p.Gln3101Ter
NM_001370348.2:c.*7022G>A (PHF3) MANE Select	NP_001357277.1:n.*7022G>A
ENST00000262043.8:c.*7022G>A (PHF3) MANE Select	ENSP00000262043.4:n.*7022G>A
ENST00000503581.6:c.9301C>T (EYS) MANE Select	ENSP00000424243.1:p.Gln3101Ter
NM_001142800.1:c.9301C>T (EYS)	NP_001136272.1:p.Gln3101Ter
NM_001290259.2:c.*7022G>A (PHF3)	NP_001277188.1:n.*7022G>A
NM_001292009.1:c.9364C>T (EYS)	NP_001278938.1:p.Gln3122Ter
NM_001292009.2:c.9364C>T (EYS)	NP_001278938.1:p.Gln3122Ter
NM_001370349.2:c.*7022G>A (PHF3)	NP_001357278.1:n.*7022G>A
NM_001370350.2:c.*7022G>A (PHF3)	NP_001357279.1:n.*7022G>A
NM_015153.4:c.*7022G>A (PHF3)	NP_055968.1:n.*7022G>A
ENST00000370616.6:c.9364C>T (EYS)	ENSP00000359650.2:p.Gln3122Ter
ENST00000370618.7:c.9301C>T (EYS)	ENSP00000359652.4:p.Gln3101Ter
ENST00000370621.7:c.9364C>T (EYS)	ENSP00000359655.3:p.Gln3122Ter
ENST00000503581.5:c.9301C>T (EYS)	ENSP00000424243.1:p.Gln3101Ter
ENST00000505138.1:c.363+9368G>A (PHF3)