Canonical Allele Identifier: CA9908573
Community Standard Title: NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)
Gene: ADNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50892153G>A , CM000682.2:g.50892153G>A GRCh38
NC_000020.10:g.49508690G>A , CM000682.1:g.49508690G>A GRCh37
NC_000020.9:g.48942097G>A NCBI36
NG_034200.1:g.43838C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001282531.3:c.2561C>T MANE Select NP_001269460.1:p.Ser854Phe
ENST00000621696.5:c.2561C>T MANE Select ENSP00000483881.1:p.Ser854Phe
NM_001282531.1:c.2561C>T NP_001269460.1:p.Ser854Phe
NM_001282531.2:c.2561C>T NP_001269460.1:p.Ser854Phe
NM_001282532.1:c.2561C>T NP_001269461.1:p.Ser854Phe
NM_001282532.2:c.2561C>T NP_001269461.1:p.Ser854Phe
NM_001347511.1:c.2561C>T NP_001334440.1:p.Ser854Phe
NM_001347511.2:c.2561C>T NP_001334440.1:p.Ser854Phe
NM_015339.3:c.2561C>T NP_056154.1:p.Ser854Phe
NM_015339.4:c.2561C>T NP_056154.1:p.Ser854Phe
NM_015339.5:c.2561C>T NP_056154.1:p.Ser854Phe
NM_181442.2:c.2561C>T NP_852107.1:p.Ser854Phe
NM_181442.3:c.2561C>T NP_852107.1:p.Ser854Phe
NM_181442.4:c.2561C>T NP_852107.1:p.Ser854Phe
ENST00000349014.7:c.2561C>T ENSP00000342905.3:p.Ser854Phe
ENST00000349014.8:c.2561C>T ENSP00000342905.3:p.Ser854Phe
ENST00000371602.8:c.2561C>T ENSP00000360662.2:p.Ser854Phe
ENST00000371602.9:c.2561C>T ENSP00000360662.2:p.Ser854Phe
ENST00000396029.7:c.2561C>T ENSP00000379346.3:p.Ser854Phe
ENST00000396029.8:c.2561C>T ENSP00000379346.3:p.Ser854Phe
ENST00000396032.7:c.2561C>T ENSP00000379349.2:p.Ser854Phe
ENST00000396032.8:c.2561C>T ENSP00000379349.2:p.Ser854Phe
ENST00000621696.4:c.2561C>T ENSP00000483881.1:p.Ser854Phe
ENST00000644386.1:c.202-2196C>T ENSP00000493755.1:n.202-2196C>T
ENST00000645081.1:c.1877C>T ENSP00000495540.1:p.Ser626Phe
ENST00000673732.1:c.2777C>T ENSP00000501294.1:p.Ser926Phe
XM_011528747.1:c.2561C>T XP_011527049.1:p.Ser854Phe
XM_011528747.2:c.2561C>T XP_011527049.1:p.Ser854Phe
XM_011528748.1:c.2588C>T XP_011527050.1:p.Ser863Phe
XM_011528748.2:c.2588C>T XP_011527050.1:p.Ser863Phe
XM_017027758.1:c.2561C>T XP_016883247.1:p.Ser854Phe
XM_017027759.1:c.2561C>T XP_016883248.1:p.Ser854Phe