Canonical Allele Identifier: CA515263592
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160246T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721818T>G , CM000684.2:g.50721818T>G GRCh38
NC_000022.10:g.51160246T>G , CM000684.1:g.51160246T>G GRCh37
NC_000022.9:g.49507112T>G NCBI36
NG_008607.2:g.52464T>G
NG_070230.1:g.57602T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3586T>G ENSP00000489147.2:p.Ser1196Ala
ENST00000414786.7:n.4170T>G
ENST00000445220.7:c.2638T>G ENSP00000489407.2:p.Ser880Ala
ENST00000664402.2:c.2128T>G ENSP00000499475.1:p.Ser710Ala
ENST00000673971.2:c.*2584T>G ENSP00000501192.1:n.*2584T>G
ENST00000445220.6:c.2638T>G ENSP00000489407.2:p.Ser880Ala
ENST00000262795.6:c.3586T>G ENSP00000489147.2:p.Ser1196Ala
ENST00000664402.1:c.2128T>G ENSP00000499475.1:p.Ser710Ala
ENST00000673971.1:c.*2584T>G ENSP00000501192.1:n.*2584T>G
ENST00000262795.5:c.3982T>G ENSP00000489147.1:p.Ser1328Ala
ENST00000414786.6:n.4170T>G
ENST00000445220.5:c.3964T>G ENSP00000489407.1:p.Ser1322Ala
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