Canonical Allele Identifier: CA16043635
Gene: ADNP HGNC NCBI

Linked Data

ClinVar Variation Id: 374229
dbSNP Id: rs1057518991

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000349014.8:c.673C>T ENSP00000342905.3:p.Arg225Ter
ENST00000371602.9:c.673C>T ENSP00000360662.2:p.Arg225Ter
ENST00000396029.8:c.673C>T ENSP00000379346.3:p.Arg225Ter
ENST00000396032.8:c.673C>T ENSP00000379349.2:p.Arg225Ter
ENST00000621696.5:c.673C>T MANE Select ENSP00000483881.1:p.Arg225Ter
ENST00000644386.1:c.202-4084C>T ENSP00000493755.1:n.202-4084C>T
ENST00000645081.1:c.-12C>T ENSP00000495540.1:n.-12C>T
ENST00000673732.1:c.889C>T ENSP00000501294.1:p.Arg297Ter
ENST00000349014.7:c.673C>T ENSP00000342905.3:p.Arg225Ter
ENST00000371602.8:c.673C>T ENSP00000360662.2:p.Arg225Ter
ENST00000396029.7:c.673C>T ENSP00000379346.3:p.Arg225Ter
ENST00000396032.7:c.673C>T ENSP00000379349.2:p.Arg225Ter
ENST00000621696.4:c.673C>T ENSP00000483881.1:p.Arg225Ter
NM_001282531.1:c.673C>T NP_001269460.1:p.Arg225Ter
NM_001282532.1:c.673C>T NP_001269461.1:p.Arg225Ter
NM_015339.3:c.673C>T NP_056154.1:p.Arg225Ter
NM_181442.2:c.673C>T NP_852107.1:p.Arg225Ter
XM_011528747.1:c.673C>T XP_011527049.1:p.Arg225Ter
XM_011528748.1:c.700C>T XP_011527050.1:p.Arg234Ter
NM_001282531.2:c.673C>T NP_001269460.1:p.Arg225Ter
NM_001347511.1:c.673C>T NP_001334440.1:p.Arg225Ter
NM_015339.4:c.673C>T NP_056154.1:p.Arg225Ter
NM_181442.3:c.673C>T NP_852107.1:p.Arg225Ter
XM_011528747.2:c.673C>T XP_011527049.1:p.Arg225Ter
XM_011528748.2:c.700C>T XP_011527050.1:p.Arg234Ter
XM_017027758.1:c.673C>T XP_016883247.1:p.Arg225Ter
XM_017027759.1:c.673C>T XP_016883248.1:p.Arg225Ter
NM_001282531.3:c.673C>T MANE Select NP_001269460.1:p.Arg225Ter
NM_001347511.2:c.673C>T NP_001334440.1:p.Arg225Ter
NM_015339.5:c.673C>T NP_056154.1:p.Arg225Ter
NM_181442.4:c.673C>T NP_852107.1:p.Arg225Ter
NM_001282532.2:c.673C>T NP_001269461.1:p.Arg225Ter