Canonical Allele Identifier: CA364384610

Gene: PHF3 EYS

Linked Data

• dbSNP Id: rs1476966143
• gnomAD v2: 6-64431420-G-A
• gnomAD v4: 6-63721524-G-A
• MyVariant Identifiers: chr6:g.64431420G>A (hg19) ; chr6:g.63721524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721524G>A , CM000668.2:g.63721524G>A	GRCh38
NC_000006.11:g.64431420G>A , CM000668.1:g.64431420G>A	GRCh37
NC_000006.10:g.64489379G>A	NCBI36
NG_023443.1:g.1990699C>T
NG_023443.2:g.1990702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7816G>A (PHF3) MANE Select	ENSP00000262043.4:n.*7816G>A
ENST00000503581.6:c.8507C>T (EYS) MANE Select	ENSP00000424243.1:p.Ala2836Val
ENST00000370616.6:c.8570C>T (EYS)	ENSP00000359650.2:p.Ala2857Val
ENST00000370618.7:c.8507C>T (EYS)	ENSP00000359652.4:p.Ala2836Val
ENST00000370621.7:c.8570C>T (EYS)	ENSP00000359655.3:p.Ala2857Val
ENST00000503581.5:c.8507C>T (EYS)	ENSP00000424243.1:p.Ala2836Val
ENST00000505138.1:c.363+10162G>A (PHF3)
NM_001142800.1:c.8507C>T (EYS)	NP_001136272.1:p.Ala2836Val
NM_001292009.1:c.8570C>T (EYS)	NP_001278938.1:p.Ala2857Val
NM_001142800.2:c.8507C>T (EYS) MANE Select	NP_001136272.1:p.Ala2836Val
NM_001290259.2:c.*7816G>A (PHF3)	NP_001277188.1:n.*7816G>A
NM_001370348.2:c.*7816G>A (PHF3) MANE Select	NP_001357277.1:n.*7816G>A
NM_001370349.2:c.*7816G>A (PHF3)	NP_001357278.1:n.*7816G>A
NM_001370350.2:c.*7816G>A (PHF3)	NP_001357279.1:n.*7816G>A
NM_015153.4:c.*7816G>A (PHF3)	NP_055968.1:n.*7816G>A
NM_001292009.2:c.8570C>T (EYS)	NP_001278938.1:p.Ala2857Val