Canonical Allele Identifier: CA515263794
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160311G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721883G>A , CM000684.2:g.50721883G>A GRCh38
NC_000022.10:g.51160311G>A , CM000684.1:g.51160311G>A GRCh37
NC_000022.9:g.49507177G>A NCBI36
NG_008607.2:g.52529G>A
NG_070230.1:g.57667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3651G>A ENSP00000489147.2:p.Glu1217=
ENST00000414786.7:n.4235G>A
ENST00000445220.7:c.2703G>A ENSP00000489407.2:p.Glu901=
ENST00000664402.2:c.2193G>A ENSP00000499475.1:p.Glu731=
ENST00000673971.2:c.*2649G>A ENSP00000501192.1:n.*2649G>A
ENST00000445220.6:c.2703G>A ENSP00000489407.2:p.Glu901=
ENST00000262795.6:c.3651G>A ENSP00000489147.2:p.Glu1217=
ENST00000664402.1:c.2193G>A ENSP00000499475.1:p.Glu731=
ENST00000673971.1:c.*2649G>A ENSP00000501192.1:n.*2649G>A
ENST00000262795.5:c.4047G>A ENSP00000489147.1:p.Glu1349=
ENST00000414786.6:n.4235G>A
ENST00000445220.5:c.4029G>A ENSP00000489407.1:p.Glu1343=