Canonical Allele Identifier: CA364370065

Gene: PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63646657G>A , CM000668.2:g.63646657G>A	GRCh38
NC_000006.11:g.64356562G>A , CM000668.1:g.64356562G>A	GRCh37
NC_000006.10:g.64414521G>A	NCBI36
NG_034034.1:g.15856G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001370348.2:c.106G>A MANE Select	NP_001357277.1:p.Ala36Thr
ENST00000262043.8:c.106G>A MANE Select	ENSP00000262043.4:p.Ala36Thr
NM_001290259.1:c.-352G>A	NP_001277188.1:n.-352G>A
NM_001290259.2:c.-352G>A	NP_001277188.1:n.-352G>A
NM_001290260.1:c.106G>A	NP_001277189.1:p.Ala36Thr
NM_001290260.2:c.106G>A	NP_001277189.1:p.Ala36Thr
NM_001370349.2:c.-21+10507G>A	NP_001357278.1:n.-21+10507G>A
NM_001370350.2:c.-305G>A	NP_001357279.1:n.-305G>A
NM_015153.3:c.106G>A	NP_055968.1:p.Ala36Thr
NM_015153.4:c.106G>A	NP_055968.1:p.Ala36Thr
ENST00000262043.7:c.106G>A	ENSP00000262043.3:p.Ala36Thr
ENST00000393387.5:c.106G>A	ENSP00000377048.1:p.Ala36Thr
ENST00000481385.6:c.-21+10507G>A	ENSP00000425227.1:n.-21+10507G>A
ENST00000494284.6:c.-36G>A	ENSP00000424078.1:n.-36G>A
ENST00000506783.5:c.-153+10507G>A	ENSP00000424694.1:n.-153+10507G>A
ENST00000509330.5:c.106G>A	ENSP00000422841.1:p.Ala36Thr
ENST00000509876.5:c.106G>A	ENSP00000424994.1:p.Ala36Thr
ENST00000515594.5:c.-167+10507G>A	ENSP00000425338.1:n.-167+10507G>A
XM_005248701.2:c.106G>A	XP_005248758.1:p.Ala36Thr
XM_005248701.4:c.106G>A	XP_005248758.1:p.Ala36Thr
XM_005248702.2:c.-21+10507G>A	XP_005248759.1:n.-21+10507G>A
XM_005248702.3:c.-21+10507G>A	XP_005248759.1:n.-21+10507G>A
XM_005248703.2:c.-167+10507G>A	XP_005248760.1:n.-167+10507G>A
XM_005248703.4:c.-167+10507G>A	XP_005248760.1:n.-167+10507G>A
XM_006715426.2:c.106G>A	XP_006715489.1:p.Ala36Thr
XM_006715426.3:c.106G>A	XP_006715489.1:p.Ala36Thr
XM_011535648.1:c.133G>A	XP_011533950.1:p.Ala45Thr
XM_011535648.3:c.133G>A	XP_011533950.1:p.Ala45Thr
XM_017010626.1:c.-305G>A	XP_016866115.1:n.-305G>A