Canonical Allele Identifier: CA364379795

Gene: PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63713343G>A , CM000668.2:g.63713343G>A	GRCh38
NC_000006.11:g.64423239G>A , CM000668.1:g.64423239G>A	GRCh37
NC_000006.10:g.64481198G>A	NCBI36
NG_034034.1:g.82542G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001370348.2:c.5755G>A MANE Select	NP_001357277.1:p.Asp1919Asn
ENST00000262043.8:c.5755G>A MANE Select	ENSP00000262043.4:p.Asp1919Asn
NM_001290259.1:c.5491G>A	NP_001277188.1:p.Asp1831Asn
NM_001290259.2:c.5491G>A	NP_001277188.1:p.Asp1831Asn
NM_001370349.2:c.5491G>A	NP_001357278.1:p.Asp1831Asn
NM_001370350.2:c.3562G>A	NP_001357279.1:p.Asp1188Asn
NM_015153.3:c.5755G>A	NP_055968.1:p.Asp1919Asn
NM_015153.4:c.5755G>A	NP_055968.1:p.Asp1919Asn
ENST00000262043.7:c.5755G>A	ENSP00000262043.3:p.Asp1919Asn
ENST00000393387.5:c.5755G>A	ENSP00000377048.1:p.Asp1919Asn
ENST00000505138.1:c.363+1981G>A
ENST00000509876.5:c.*5699G>A	ENSP00000424994.1:n.*5699G>A
XM_005248701.2:c.5755G>A	XP_005248758.1:p.Asp1919Asn
XM_005248701.4:c.5755G>A	XP_005248758.1:p.Asp1919Asn
XM_005248702.2:c.5491G>A	XP_005248759.1:p.Asp1831Asn
XM_005248702.3:c.5491G>A	XP_005248759.1:p.Asp1831Asn
XM_005248703.2:c.3562G>A	XP_005248760.1:p.Asp1188Asn
XM_005248703.4:c.3562G>A	XP_005248760.1:p.Asp1188Asn
XM_006715426.2:c.5755G>A	XP_006715489.1:p.Asp1919Asn
XM_006715426.3:c.5755G>A	XP_006715489.1:p.Asp1919Asn
XM_006715427.2:c.3181G>A	XP_006715490.1:p.Asp1061Asn
XM_011535648.1:c.5782G>A	XP_011533950.1:p.Asp1928Asn
XM_011535648.3:c.5782G>A	XP_011533950.1:p.Asp1928Asn
XM_017010626.1:c.3562G>A	XP_016866115.1:p.Asp1188Asn