Canonical Allele Identifier: CA364384413

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 2286226
• ClinVar RCV Id: RCV002845278
• MyVariant Identifiers: chr6:g.64431334C>T (hg19) ; chr6:g.63721438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721438C>T , CM000668.2:g.63721438C>T	GRCh38
NC_000006.11:g.64431334C>T , CM000668.1:g.64431334C>T	GRCh37
NC_000006.10:g.64489293C>T	NCBI36
NG_023443.1:g.1990785G>A
NG_023443.2:g.1990788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7730C>T (PHF3) MANE Select	ENSP00000262043.4:n.*7730C>T
ENST00000503581.6:c.8593G>A (EYS) MANE Select	ENSP00000424243.1:p.Ala2865Thr
ENST00000370616.6:c.8656G>A (EYS)	ENSP00000359650.2:p.Ala2886Thr
ENST00000370618.7:c.8593G>A (EYS)	ENSP00000359652.4:p.Ala2865Thr
ENST00000370621.7:c.8656G>A (EYS)	ENSP00000359655.3:p.Ala2886Thr
ENST00000503581.5:c.8593G>A (EYS)	ENSP00000424243.1:p.Ala2865Thr
ENST00000505138.1:c.363+10076C>T (PHF3)
NM_001142800.1:c.8593G>A (EYS)	NP_001136272.1:p.Ala2865Thr
NM_001292009.1:c.8656G>A (EYS)	NP_001278938.1:p.Ala2886Thr
NM_001142800.2:c.8593G>A (EYS) MANE Select	NP_001136272.1:p.Ala2865Thr
NM_001290259.2:c.*7730C>T (PHF3)	NP_001277188.1:n.*7730C>T
NM_001370348.2:c.*7730C>T (PHF3) MANE Select	NP_001357277.1:n.*7730C>T
NM_001370349.2:c.*7730C>T (PHF3)	NP_001357278.1:n.*7730C>T
NM_001370350.2:c.*7730C>T (PHF3)	NP_001357279.1:n.*7730C>T
NM_015153.4:c.*7730C>T (PHF3)	NP_055968.1:n.*7730C>T
NM_001292009.2:c.8656G>A (EYS)	NP_001278938.1:p.Ala2886Thr