Canonical Allele Identifier: CA9908901
Community Standard Title: NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg)
Gene: ADNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50894358T>C , CM000682.2:g.50894358T>C GRCh38
NC_000020.10:g.49510895T>C , CM000682.1:g.49510895T>C GRCh37
NC_000020.9:g.48944302T>C NCBI36
NG_034200.1:g.41633A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001282531.3:c.356A>G MANE Select NP_001269460.1:p.Lys119Arg
ENST00000621696.5:c.356A>G MANE Select ENSP00000483881.1:p.Lys119Arg
NM_001282531.1:c.356A>G NP_001269460.1:p.Lys119Arg
NM_001282531.2:c.356A>G NP_001269460.1:p.Lys119Arg
NM_001282532.1:c.356A>G NP_001269461.1:p.Lys119Arg
NM_001282532.2:c.356A>G NP_001269461.1:p.Lys119Arg
NM_001347511.1:c.356A>G NP_001334440.1:p.Lys119Arg
NM_001347511.2:c.356A>G NP_001334440.1:p.Lys119Arg
NM_015339.3:c.356A>G NP_056154.1:p.Lys119Arg
NM_015339.4:c.356A>G NP_056154.1:p.Lys119Arg
NM_015339.5:c.356A>G NP_056154.1:p.Lys119Arg
NM_181442.2:c.356A>G NP_852107.1:p.Lys119Arg
NM_181442.3:c.356A>G NP_852107.1:p.Lys119Arg
NM_181442.4:c.356A>G NP_852107.1:p.Lys119Arg
ENST00000349014.7:c.356A>G ENSP00000342905.3:p.Lys119Arg
ENST00000349014.8:c.356A>G ENSP00000342905.3:p.Lys119Arg
ENST00000371602.8:c.356A>G ENSP00000360662.2:p.Lys119Arg
ENST00000371602.9:c.356A>G ENSP00000360662.2:p.Lys119Arg
ENST00000396029.7:c.356A>G ENSP00000379346.3:p.Lys119Arg
ENST00000396029.8:c.356A>G ENSP00000379346.3:p.Lys119Arg
ENST00000396032.7:c.356A>G ENSP00000379349.2:p.Lys119Arg
ENST00000396032.8:c.356A>G ENSP00000379349.2:p.Lys119Arg
ENST00000534467.1:c.356A>G ENSP00000436181.1:p.Lys119Arg
ENST00000621696.4:c.356A>G ENSP00000483881.1:p.Lys119Arg
ENST00000642364.1:n.333A>G
ENST00000644386.1:c.202-4401A>G ENSP00000493755.1:n.202-4401A>G
ENST00000645081.1:c.-329A>G ENSP00000495540.1:n.-329A>G
ENST00000673732.1:c.572A>G ENSP00000501294.1:p.Lys191Arg
XM_011528747.1:c.356A>G XP_011527049.1:p.Lys119Arg
XM_011528747.2:c.356A>G XP_011527049.1:p.Lys119Arg
XM_011528748.1:c.383A>G XP_011527050.1:p.Lys128Arg
XM_011528748.2:c.383A>G XP_011527050.1:p.Lys128Arg
XM_017027758.1:c.356A>G XP_016883247.1:p.Lys119Arg
XM_017027759.1:c.356A>G XP_016883248.1:p.Lys119Arg