Canonical Allele Identifier: CA1640427094
Community Standard Title: NM_017934.7(PHIP):c.328C= (p.Arg110=)
Gene: PHIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79060680G= , CM000668.2:g.79060680G= GRCh38
NC_000006.11:g.79770397G= , CM000668.1:g.79770397G= GRCh37
NC_000006.10:g.79827116G= NCBI36
NG_051932.1:g.22619C=

Transcript Alleles

HGVS Amino-acid Change
NM_017934.7:c.328C= MANE Select NP_060404.4:p.Arg110=
ENST00000275034.5:c.328C= MANE Select ENSP00000275034.3:p.Arg110=
NM_017934.5:c.328C= NP_060404.3:p.Arg110=
NM_017934.6:c.328C= NP_060404.4:p.Arg110=
ENST00000275034.4:c.328C= ENSP00000275034.3:p.Arg110=
ENST00000700012.1:c.328C= ENSP00000514753.1:p.Arg110=
ENST00000700013.1:c.328C= ENSP00000514754.1:p.Arg110=
ENST00000700114.1:c.268C= ENSP00000514808.1:p.Arg90=
ENST00000700115.1:c.328C= ENSP00000514809.1:p.Arg110=
ENST00000700118.1:c.328C= ENSP00000514810.1:p.Arg110=
ENST00000700119.1:c.*139C= ENSP00000514811.1:n.*139C=
ENST00000700120.1:n.256C=
ENST00000700121.1:n.484C=
XM_005248729.3:c.328C= XP_005248786.1:p.Arg110=
XM_005248729.5:c.328C= XP_005248786.1:p.Arg110=
XM_011535917.1:c.328C= XP_011534219.1:p.Arg110=
XM_011535918.1:c.-189C= XP_011534220.1:n.-189C=
XM_011535918.3:c.-189C= XP_011534220.1:n.-189C=
XM_011535919.1:c.328C= XP_011534221.1:p.Arg110=
XM_017010989.2:c.-1402C= XP_016866478.1:n.-1402C=
XM_017010990.2:c.-1402C= XP_016866479.1:n.-1402C=
XR_942499.1:n.554C=