Canonical Allele Identifier: CA364365949

Gene: PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63684951A>T , CM000668.2:g.63684951A>T	GRCh38
NC_000006.11:g.64394852A>T , CM000668.1:g.64394852A>T	GRCh37
NC_000006.10:g.64452811A>T	NCBI36
NG_034034.1:g.54150A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001370348.2:c.1229A>T MANE Select	NP_001357277.1:p.Gln410Leu
ENST00000262043.8:c.1229A>T MANE Select	ENSP00000262043.4:p.Gln410Leu
NM_001290259.1:c.965A>T	NP_001277188.1:p.Gln322Leu
NM_001290259.2:c.965A>T	NP_001277188.1:p.Gln322Leu
NM_001290260.1:c.1229A>T	NP_001277189.1:p.Gln410Leu
NM_001290260.2:c.1229A>T	NP_001277189.1:p.Gln410Leu
NM_001370349.2:c.965A>T	NP_001357278.1:p.Gln322Leu
NM_001370350.2:c.-5+4790A>T	NP_001357279.1:n.-5+4790A>T
NM_015153.3:c.1229A>T	NP_055968.1:p.Gln410Leu
NM_015153.4:c.1229A>T	NP_055968.1:p.Gln410Leu
ENST00000262043.7:c.1229A>T	ENSP00000262043.3:p.Gln410Leu
ENST00000393387.5:c.1229A>T	ENSP00000377048.1:p.Gln410Leu
ENST00000481385.6:c.965A>T	ENSP00000425227.1:p.Gln322Leu
ENST00000494284.6:c.1088A>T	ENSP00000424078.1:p.Gln363Leu
ENST00000506783.5:c.671A>T	ENSP00000424694.1:p.Gln224Leu
ENST00000509330.5:c.1229A>T	ENSP00000422841.1:p.Gln410Leu
ENST00000509876.5:c.*1173A>T	ENSP00000424994.1:n.*1173A>T
ENST00000515594.5:c.-5+4790A>T	ENSP00000425338.1:n.-5+4790A>T
XM_005248701.2:c.1229A>T	XP_005248758.1:p.Gln410Leu
XM_005248701.4:c.1229A>T	XP_005248758.1:p.Gln410Leu
XM_005248702.2:c.965A>T	XP_005248759.1:p.Gln322Leu
XM_005248702.3:c.965A>T	XP_005248759.1:p.Gln322Leu
XM_005248703.2:c.-5+4790A>T	XP_005248760.1:n.-5+4790A>T
XM_005248703.4:c.-5+4790A>T	XP_005248760.1:n.-5+4790A>T
XM_006715426.2:c.1229A>T	XP_006715489.1:p.Gln410Leu
XM_006715426.3:c.1229A>T	XP_006715489.1:p.Gln410Leu
XM_006715427.2:c.-79+4790A>T	XP_006715490.1:n.-79+4790A>T
XM_011535648.1:c.1256A>T	XP_011533950.1:p.Gln419Leu
XM_011535648.3:c.1256A>T	XP_011533950.1:p.Gln419Leu
XM_017010626.1:c.-5+4790A>T	XP_016866115.1:n.-5+4790A>T