Canonical Allele Identifier: CA3875510
Community Standard Title: NM_001370348.2(PHF3):c.454G>T (p.Ala152Ser)
Gene: PHF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63684176G>T , CM000668.2:g.63684176G>T GRCh38
NC_000006.11:g.64394077G>T , CM000668.1:g.64394077G>T GRCh37
NC_000006.10:g.64452036G>T NCBI36
NG_034034.1:g.53375G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001370348.2:c.454G>T MANE Select NP_001357277.1:p.Ala152Ser
ENST00000262043.8:c.454G>T MANE Select ENSP00000262043.4:p.Ala152Ser
NM_001290259.1:c.190G>T NP_001277188.1:p.Ala64Ser
NM_001290259.2:c.190G>T NP_001277188.1:p.Ala64Ser
NM_001290260.1:c.454G>T NP_001277189.1:p.Ala152Ser
NM_001290260.2:c.454G>T NP_001277189.1:p.Ala152Ser
NM_001370349.2:c.190G>T NP_001357278.1:p.Ala64Ser
NM_001370350.2:c.-5+4015G>T NP_001357279.1:n.-5+4015G>T
NM_015153.3:c.454G>T NP_055968.1:p.Ala152Ser
NM_015153.4:c.454G>T NP_055968.1:p.Ala152Ser
ENST00000262043.7:c.454G>T ENSP00000262043.3:p.Ala152Ser
ENST00000393387.5:c.454G>T ENSP00000377048.1:p.Ala152Ser
ENST00000481385.6:c.190G>T ENSP00000425227.1:p.Ala64Ser
ENST00000494284.6:c.313G>T ENSP00000424078.1:p.Ala105Ser
ENST00000506783.5:c.-105G>T ENSP00000424694.1:n.-105G>T
ENST00000509330.5:c.454G>T ENSP00000422841.1:p.Ala152Ser
ENST00000509876.5:c.*398G>T ENSP00000424994.1:n.*398G>T
ENST00000514822.1:c.244G>T ENSP00000424197.1:p.Ala82Ser
ENST00000515594.5:c.-5+4015G>T ENSP00000425338.1:n.-5+4015G>T
XM_005248701.2:c.454G>T XP_005248758.1:p.Ala152Ser
XM_005248701.4:c.454G>T XP_005248758.1:p.Ala152Ser
XM_005248702.2:c.190G>T XP_005248759.1:p.Ala64Ser
XM_005248702.3:c.190G>T XP_005248759.1:p.Ala64Ser
XM_005248703.2:c.-5+4015G>T XP_005248760.1:n.-5+4015G>T
XM_005248703.4:c.-5+4015G>T XP_005248760.1:n.-5+4015G>T
XM_006715426.2:c.454G>T XP_006715489.1:p.Ala152Ser
XM_006715426.3:c.454G>T XP_006715489.1:p.Ala152Ser
XM_006715427.2:c.-79+4015G>T XP_006715490.1:n.-79+4015G>T
XM_011535648.1:c.481G>T XP_011533950.1:p.Ala161Ser
XM_011535648.3:c.481G>T XP_011533950.1:p.Ala161Ser
XM_017010626.1:c.-5+4015G>T XP_016866115.1:n.-5+4015G>T