Canonical Allele Identifier: CA10326261

Gene: SHANK3

Linked Data

• dbSNP Id: rs756903386
• ExAC: 22:51160606 G / A
• gnomAD v2: 22-51160606-G-A
• gnomAD v3: 22-50722178-G-A
• gnomAD v4: 22-50722178-G-A
• MyVariant Identifiers: chr22:g.51160606G>A (hg19) ; chr22:g.50722178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722178G>A , CM000684.2:g.50722178G>A	GRCh38
NC_000022.10:g.51160606G>A , CM000684.1:g.51160606G>A	GRCh37
NC_000022.9:g.49507472G>A	NCBI36
NG_008607.2:g.52824G>A
NG_070230.1:g.57962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3946G>A	ENSP00000489147.2:p.Ala1316Thr
ENST00000414786.7:n.4530G>A
ENST00000445220.7:c.2998G>A	ENSP00000489407.2:p.Ala1000Thr
ENST00000664402.2:c.2488G>A	ENSP00000499475.1:p.Ala830Thr
ENST00000673971.2:c.*2944G>A	ENSP00000501192.1:n.*2944G>A
ENST00000445220.6:c.2998G>A	ENSP00000489407.2:p.Ala1000Thr
ENST00000262795.6:c.3946G>A	ENSP00000489147.2:p.Ala1316Thr
ENST00000664402.1:c.2488G>A	ENSP00000499475.1:p.Ala830Thr
ENST00000673971.1:c.*2944G>A	ENSP00000501192.1:n.*2944G>A
ENST00000262795.5:c.4342G>A	ENSP00000489147.1:p.Ala1448Thr
ENST00000414786.6:n.4530G>A
ENST00000445220.5:c.4324G>A	ENSP00000489407.1:p.Ala1442Thr