Canonical Allele Identifier: CA568118958

Gene: PHF3 EYS

Linked Data

• dbSNP Id: rs1172719980
• gnomAD v2: 6-64430444-A-C
• gnomAD v4: 6-63720548-A-C
• MyVariant Identifiers: chr6:g.64430444A>C (hg19) ; chr6:g.63720548A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720548A>C , CM000668.2:g.63720548A>C	GRCh38
NC_000006.11:g.64430444A>C , CM000668.1:g.64430444A>C	GRCh37
NC_000006.10:g.64488403A>C	NCBI36
NG_023443.1:g.1991675T>G
NG_023443.2:g.1991678T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6840A>C (PHF3) MANE Select	ENSP00000262043.4:n.*6840A>C
ENST00000503581.6:c.*48T>G (EYS) MANE Select	ENSP00000424243.1:n.*48T>G
ENST00000370621.7:c.*48T>G (EYS)	ENSP00000359655.3:n.*48T>G
ENST00000503581.5:c.*48T>G (EYS)	ENSP00000424243.1:n.*48T>G
ENST00000505138.1:c.363+9186A>C (PHF3)
NM_001142800.1:c.*48T>G (EYS)	NP_001136272.1:n.*48T>G
NM_001292009.1:c.*48T>G (EYS)	NP_001278938.1:n.*48T>G
NM_001142800.2:c.*48T>G (EYS) MANE Select	NP_001136272.1:n.*48T>G
NM_001290259.2:c.*6840A>C (PHF3)	NP_001277188.1:n.*6840A>C
NM_001370348.2:c.*6840A>C (PHF3) MANE Select	NP_001357277.1:n.*6840A>C
NM_001370349.2:c.*6840A>C (PHF3)	NP_001357278.1:n.*6840A>C
NM_001370350.2:c.*6840A>C (PHF3)	NP_001357279.1:n.*6840A>C
NM_015153.4:c.*6840A>C (PHF3)	NP_055968.1:n.*6840A>C
NM_001292009.2:c.*48T>G (EYS)	NP_001278938.1:n.*48T>G