Canonical Allele Identifier: CA364382567

Gene: PHF3 EYS

Linked Data

• gnomAD v4: 6-63720633-T-C
• MyVariant Identifiers: chr6:g.64430529T>C (hg19) ; chr6:g.63720633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720633T>C , CM000668.2:g.63720633T>C	GRCh38
NC_000006.11:g.64430529T>C , CM000668.1:g.64430529T>C	GRCh37
NC_000006.10:g.64488488T>C	NCBI36
NG_023443.1:g.1991590A>G
NG_023443.2:g.1991593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6925T>C (PHF3) MANE Select	ENSP00000262043.4:n.*6925T>C
ENST00000503581.6:c.9398A>G (EYS) MANE Select	ENSP00000424243.1:p.Asn3133Ser
ENST00000370616.6:c.9461A>G (EYS)	ENSP00000359650.2:p.Asn3154Ser
ENST00000370618.7:c.9398A>G (EYS)	ENSP00000359652.4:p.Asn3133Ser
ENST00000370621.7:c.9461A>G (EYS)	ENSP00000359655.3:p.Asn3154Ser
ENST00000503581.5:c.9398A>G (EYS)	ENSP00000424243.1:p.Asn3133Ser
ENST00000505138.1:c.363+9271T>C (PHF3)
NM_001142800.1:c.9398A>G (EYS)	NP_001136272.1:p.Asn3133Ser
NM_001292009.1:c.9461A>G (EYS)	NP_001278938.1:p.Asn3154Ser
NM_001142800.2:c.9398A>G (EYS) MANE Select	NP_001136272.1:p.Asn3133Ser
NM_001290259.2:c.*6925T>C (PHF3)	NP_001277188.1:n.*6925T>C
NM_001370348.2:c.*6925T>C (PHF3) MANE Select	NP_001357277.1:n.*6925T>C
NM_001370349.2:c.*6925T>C (PHF3)	NP_001357278.1:n.*6925T>C
NM_001370350.2:c.*6925T>C (PHF3)	NP_001357279.1:n.*6925T>C
NM_015153.4:c.*6925T>C (PHF3)	NP_055968.1:n.*6925T>C
NM_001292009.2:c.9461A>G (EYS)	NP_001278938.1:p.Asn3154Ser