Canonical Allele Identifier: CA1633380384

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63720439G= , CM000668.2:g.63720439G= GRCh38
NC_000006.11:g.64430335G= , CM000668.1:g.64430335G= GRCh37
NC_000006.10:g.64488294G= NCBI36
NG_023443.1:g.1991784C=
NG_023443.2:g.1991787C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262043.8:c.*6731G= (PHF3) MANE Select ENSP00000262043.4:n.*6731G=
ENST00000503581.6:c.*157C= (EYS) MANE Select ENSP00000424243.1:n.*157C=
ENST00000370621.7:c.*157C= (EYS) ENSP00000359655.3:n.*157C=
ENST00000503581.5:c.*157C= (EYS) ENSP00000424243.1:n.*157C=
ENST00000505138.1:c.363+9077G= (PHF3)
NM_001142800.1:c.*157C= (EYS) NP_001136272.1:n.*157C=
NM_001292009.1:c.*157C= (EYS) NP_001278938.1:n.*157C=
NM_001142800.2:c.*157C= (EYS) MANE Select NP_001136272.1:n.*157C=
NM_001290259.2:c.*6731G= (PHF3) NP_001277188.1:n.*6731G=
NM_001370348.2:c.*6731G= (PHF3) MANE Select NP_001357277.1:n.*6731G=
NM_001370349.2:c.*6731G= (PHF3) NP_001357278.1:n.*6731G=
NM_001370350.2:c.*6731G= (PHF3) NP_001357279.1:n.*6731G=
NM_015153.4:c.*6731G= (PHF3) NP_055968.1:n.*6731G=
NM_001292009.2:c.*157C= (EYS) NP_001278938.1:n.*157C=