Canonical Allele Identifier: CA364382648

Gene: PHF3 EYS

Linked Data

• dbSNP Id: rs1425608985
• gnomAD v2: 6-64430565-G-A
• gnomAD v4: 6-63720669-G-A
• MyVariant Identifiers: chr6:g.64430565G>A (hg19) ; chr6:g.63720669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720669G>A , CM000668.2:g.63720669G>A	GRCh38
NC_000006.11:g.64430565G>A , CM000668.1:g.64430565G>A	GRCh37
NC_000006.10:g.64488524G>A	NCBI36
NG_023443.1:g.1991554C>T
NG_023443.2:g.1991557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6961G>A (PHF3) MANE Select	ENSP00000262043.4:n.*6961G>A
ENST00000503581.6:c.9362C>T (EYS) MANE Select	ENSP00000424243.1:p.Pro3121Leu
ENST00000370616.6:c.9425C>T (EYS)	ENSP00000359650.2:p.Pro3142Leu
ENST00000370618.7:c.9362C>T (EYS)	ENSP00000359652.4:p.Pro3121Leu
ENST00000370621.7:c.9425C>T (EYS)	ENSP00000359655.3:p.Pro3142Leu
ENST00000503581.5:c.9362C>T (EYS)	ENSP00000424243.1:p.Pro3121Leu
ENST00000505138.1:c.363+9307G>A (PHF3)
NM_001142800.1:c.9362C>T (EYS)	NP_001136272.1:p.Pro3121Leu
NM_001292009.1:c.9425C>T (EYS)	NP_001278938.1:p.Pro3142Leu
NM_001142800.2:c.9362C>T (EYS) MANE Select	NP_001136272.1:p.Pro3121Leu
NM_001290259.2:c.*6961G>A (PHF3)	NP_001277188.1:n.*6961G>A
NM_001370348.2:c.*6961G>A (PHF3) MANE Select	NP_001357277.1:n.*6961G>A
NM_001370349.2:c.*6961G>A (PHF3)	NP_001357278.1:n.*6961G>A
NM_001370350.2:c.*6961G>A (PHF3)	NP_001357279.1:n.*6961G>A
NM_015153.4:c.*6961G>A (PHF3)	NP_055968.1:n.*6961G>A
NM_001292009.2:c.9425C>T (EYS)	NP_001278938.1:p.Pro3142Leu