Canonical Allele Identifier: CA9908790
Community Standard Title: NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)
Gene: ADNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50893651C>T , CM000682.2:g.50893651C>T GRCh38
NC_000020.10:g.49510188C>T , CM000682.1:g.49510188C>T GRCh37
NC_000020.9:g.48943595C>T NCBI36
NG_034200.1:g.42340G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001282531.3:c.1063G>A MANE Select NP_001269460.1:p.Ala355Thr
ENST00000621696.5:c.1063G>A MANE Select ENSP00000483881.1:p.Ala355Thr
NM_001282531.1:c.1063G>A NP_001269460.1:p.Ala355Thr
NM_001282531.2:c.1063G>A NP_001269460.1:p.Ala355Thr
NM_001282532.1:c.1063G>A NP_001269461.1:p.Ala355Thr
NM_001282532.2:c.1063G>A NP_001269461.1:p.Ala355Thr
NM_001347511.1:c.1063G>A NP_001334440.1:p.Ala355Thr
NM_001347511.2:c.1063G>A NP_001334440.1:p.Ala355Thr
NM_015339.3:c.1063G>A NP_056154.1:p.Ala355Thr
NM_015339.4:c.1063G>A NP_056154.1:p.Ala355Thr
NM_015339.5:c.1063G>A NP_056154.1:p.Ala355Thr
NM_181442.2:c.1063G>A NP_852107.1:p.Ala355Thr
NM_181442.3:c.1063G>A NP_852107.1:p.Ala355Thr
NM_181442.4:c.1063G>A NP_852107.1:p.Ala355Thr
ENST00000349014.7:c.1063G>A ENSP00000342905.3:p.Ala355Thr
ENST00000349014.8:c.1063G>A ENSP00000342905.3:p.Ala355Thr
ENST00000371602.8:c.1063G>A ENSP00000360662.2:p.Ala355Thr
ENST00000371602.9:c.1063G>A ENSP00000360662.2:p.Ala355Thr
ENST00000396029.7:c.1063G>A ENSP00000379346.3:p.Ala355Thr
ENST00000396029.8:c.1063G>A ENSP00000379346.3:p.Ala355Thr
ENST00000396032.7:c.1063G>A ENSP00000379349.2:p.Ala355Thr
ENST00000396032.8:c.1063G>A ENSP00000379349.2:p.Ala355Thr
ENST00000621696.4:c.1063G>A ENSP00000483881.1:p.Ala355Thr
ENST00000644386.1:c.202-3694G>A ENSP00000493755.1:n.202-3694G>A
ENST00000645081.1:c.379G>A ENSP00000495540.1:p.Ala127Thr
ENST00000673732.1:c.1279G>A ENSP00000501294.1:p.Ala427Thr
XM_011528747.1:c.1063G>A XP_011527049.1:p.Ala355Thr
XM_011528747.2:c.1063G>A XP_011527049.1:p.Ala355Thr
XM_011528748.1:c.1090G>A XP_011527050.1:p.Ala364Thr
XM_011528748.2:c.1090G>A XP_011527050.1:p.Ala364Thr
XM_017027758.1:c.1063G>A XP_016883247.1:p.Ala355Thr
XM_017027759.1:c.1063G>A XP_016883248.1:p.Ala355Thr