Canonical Allele Identifier: CA2368744069
Gene: ADNP HGNC NCBI

Linked Data

dbSNP Id: rs1568724222

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50903842A>G , CM000682.2:g.50903842A>G GRCh38
NC_000020.10:g.49520379A>G , CM000682.1:g.49520379A>G GRCh37
NC_000020.9:g.48953786A>G NCBI36
NG_034200.1:g.32149T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000349014.8:c.108+47T>C ENSP00000342905.3:n.108+47T>C
ENST00000371602.9:c.108+47T>C ENSP00000360662.2:n.108+47T>C
ENST00000396029.8:c.108+47T>C ENSP00000379346.3:n.108+47T>C
ENST00000396032.8:c.108+47T>C ENSP00000379349.2:n.108+47T>C
ENST00000621696.5:c.108+47T>C MANE Select ENSP00000483881.1:n.108+47T>C
ENST00000642364.1:n.86-1733T>C
ENST00000644386.1:c.108+47T>C ENSP00000493755.1:n.108+47T>C
ENST00000645081.1:c.-576-1733T>C ENSP00000495540.1:n.-576-1733T>C
ENST00000673732.1:c.324+47T>C ENSP00000501294.1:n.324+47T>C
ENST00000349014.7:c.108+47T>C ENSP00000342905.3:n.108+47T>C
ENST00000371602.8:c.108+47T>C ENSP00000360662.2:n.108+47T>C
ENST00000396029.7:c.108+47T>C ENSP00000379346.3:n.108+47T>C
ENST00000396032.7:c.108+47T>C ENSP00000379349.2:n.108+47T>C
ENST00000534467.1:c.108+47T>C ENSP00000436181.1:n.108+47T>C
ENST00000621696.4:c.108+47T>C ENSP00000483881.1:n.108+47T>C
NM_001282531.1:c.108+47T>C NP_001269460.1:n.108+47T>C
NM_001282532.1:c.108+47T>C NP_001269461.1:n.108+47T>C
NM_015339.3:c.108+47T>C NP_056154.1:n.108+47T>C
NM_181442.2:c.108+47T>C NP_852107.1:n.108+47T>C
XM_011528747.1:c.108+47T>C XP_011527049.1:n.108+47T>C
XM_011528748.1:c.135+47T>C XP_011527050.1:n.135+47T>C
NM_001282531.2:c.108+47T>C NP_001269460.1:n.108+47T>C
NM_001347511.1:c.108+47T>C NP_001334440.1:n.108+47T>C
NM_015339.4:c.108+47T>C NP_056154.1:n.108+47T>C
NM_181442.3:c.108+47T>C NP_852107.1:n.108+47T>C
XM_011528747.2:c.108+47T>C XP_011527049.1:n.108+47T>C
XM_011528748.2:c.135+47T>C XP_011527050.1:n.135+47T>C
XM_017027758.1:c.108+47T>C XP_016883247.1:n.108+47T>C
XM_017027759.1:c.108+47T>C XP_016883248.1:n.108+47T>C
NM_001282531.3:c.108+47T>C MANE Select NP_001269460.1:n.108+47T>C
NM_001347511.2:c.108+47T>C NP_001334440.1:n.108+47T>C
NM_015339.5:c.108+47T>C NP_056154.1:n.108+47T>C
NM_181442.4:c.108+47T>C NP_852107.1:n.108+47T>C
NM_001282532.2:c.108+47T>C NP_001269461.1:n.108+47T>C