Canonical Allele Identifier: CA364384872

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 1016022
• ClinVar RCV Id: RCV001314964
• dbSNP Id: rs1768393512
• MyVariant Identifiers: chr6:g.64431495T>A (hg19) ; chr6:g.63721599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721599T>A , CM000668.2:g.63721599T>A	GRCh38
NC_000006.11:g.64431495T>A , CM000668.1:g.64431495T>A	GRCh37
NC_000006.10:g.64489454T>A	NCBI36
NG_023443.1:g.1990624A>T
NG_023443.2:g.1990627A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7891T>A (PHF3) MANE Select	ENSP00000262043.4:n.*7891T>A
ENST00000503581.6:c.8432A>T (EYS) MANE Select	ENSP00000424243.1:p.Lys2811Ile
ENST00000370616.6:c.8495A>T (EYS)	ENSP00000359650.2:p.Lys2832Ile
ENST00000370618.7:c.8432A>T (EYS)	ENSP00000359652.4:p.Lys2811Ile
ENST00000370621.7:c.8495A>T (EYS)	ENSP00000359655.3:p.Lys2832Ile
ENST00000503581.5:c.8432A>T (EYS)	ENSP00000424243.1:p.Lys2811Ile
ENST00000505138.1:c.363+10237T>A (PHF3)
NM_001142800.1:c.8432A>T (EYS)	NP_001136272.1:p.Lys2811Ile
NM_001292009.1:c.8495A>T (EYS)	NP_001278938.1:p.Lys2832Ile
NM_001142800.2:c.8432A>T (EYS) MANE Select	NP_001136272.1:p.Lys2811Ile
NM_001290259.2:c.*7891T>A (PHF3)	NP_001277188.1:n.*7891T>A
NM_001370348.2:c.*7891T>A (PHF3) MANE Select	NP_001357277.1:n.*7891T>A
NM_001370349.2:c.*7891T>A (PHF3)	NP_001357278.1:n.*7891T>A
NM_001370350.2:c.*7891T>A (PHF3)	NP_001357279.1:n.*7891T>A
NM_015153.4:c.*7891T>A (PHF3)	NP_055968.1:n.*7891T>A
NM_001292009.2:c.8495A>T (EYS)	NP_001278938.1:p.Lys2832Ile