Canonical Allele Identifier: CA2368739010
Community Standard Title: NM_001282531.3(ADNP):c.673C= (p.Arg225=)
Gene: ADNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50894041G= , CM000682.2:g.50894041G= GRCh38
NC_000020.10:g.49510578G= , CM000682.1:g.49510578G= GRCh37
NC_000020.9:g.48943985G= NCBI36
NG_034200.1:g.41950C=

Transcript Alleles

HGVS Amino-acid Change
NM_001282531.3:c.673C= MANE Select NP_001269460.1:p.Arg225=
ENST00000621696.5:c.673C= MANE Select ENSP00000483881.1:p.Arg225=
NM_001282531.1:c.673C= NP_001269460.1:p.Arg225=
NM_001282531.2:c.673C= NP_001269460.1:p.Arg225=
NM_001282532.1:c.673C= NP_001269461.1:p.Arg225=
NM_001282532.2:c.673C= NP_001269461.1:p.Arg225=
NM_001347511.1:c.673C= NP_001334440.1:p.Arg225=
NM_001347511.2:c.673C= NP_001334440.1:p.Arg225=
NM_015339.3:c.673C= NP_056154.1:p.Arg225=
NM_015339.4:c.673C= NP_056154.1:p.Arg225=
NM_015339.5:c.673C= NP_056154.1:p.Arg225=
NM_181442.2:c.673C= NP_852107.1:p.Arg225=
NM_181442.3:c.673C= NP_852107.1:p.Arg225=
NM_181442.4:c.673C= NP_852107.1:p.Arg225=
ENST00000349014.7:c.673C= ENSP00000342905.3:p.Arg225=
ENST00000349014.8:c.673C= ENSP00000342905.3:p.Arg225=
ENST00000371602.8:c.673C= ENSP00000360662.2:p.Arg225=
ENST00000371602.9:c.673C= ENSP00000360662.2:p.Arg225=
ENST00000396029.7:c.673C= ENSP00000379346.3:p.Arg225=
ENST00000396029.8:c.673C= ENSP00000379346.3:p.Arg225=
ENST00000396032.7:c.673C= ENSP00000379349.2:p.Arg225=
ENST00000396032.8:c.673C= ENSP00000379349.2:p.Arg225=
ENST00000621696.4:c.673C= ENSP00000483881.1:p.Arg225=
ENST00000644386.1:c.202-4084C= ENSP00000493755.1:n.202-4084C=
ENST00000645081.1:c.-12C= ENSP00000495540.1:n.-12C=
ENST00000673732.1:c.889C= ENSP00000501294.1:p.Arg297=
XM_011528747.1:c.673C= XP_011527049.1:p.Arg225=
XM_011528747.2:c.673C= XP_011527049.1:p.Arg225=
XM_011528748.1:c.700C= XP_011527050.1:p.Arg234=
XM_011528748.2:c.700C= XP_011527050.1:p.Arg234=
XM_017027758.1:c.673C= XP_016883247.1:p.Arg225=
XM_017027759.1:c.673C= XP_016883248.1:p.Arg225=