Canonical Allele Identifier: CA515263462

Gene: SHANK3

Linked Data

• dbSNP Id: rs781291735
• gnomAD v2: 22-51160207-G-A
• gnomAD v4: 22-50721779-G-A
• MyVariant Identifiers: chr22:g.51160207G>A (hg19) ; chr22:g.50721779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721779G>A , CM000684.2:g.50721779G>A	GRCh38
NC_000022.10:g.51160207G>A , CM000684.1:g.51160207G>A	GRCh37
NC_000022.9:g.49507073G>A	NCBI36
NG_008607.2:g.52425G>A
NG_070230.1:g.57563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3547G>A	ENSP00000489147.2:p.Gly1183Arg
ENST00000414786.7:n.4131G>A
ENST00000445220.7:c.2599G>A	ENSP00000489407.2:p.Gly867Arg
ENST00000664402.2:c.2089G>A	ENSP00000499475.1:p.Gly697Arg
ENST00000673971.2:c.*2545G>A	ENSP00000501192.1:n.*2545G>A
ENST00000445220.6:c.2599G>A	ENSP00000489407.2:p.Gly867Arg
ENST00000262795.6:c.3547G>A	ENSP00000489147.2:p.Gly1183Arg
ENST00000664402.1:c.2089G>A	ENSP00000499475.1:p.Gly697Arg
ENST00000673971.1:c.*2545G>A	ENSP00000501192.1:n.*2545G>A
ENST00000262795.5:c.3943G>A	ENSP00000489147.1:p.Gly1315Arg
ENST00000414786.6:n.4131G>A
ENST00000445220.5:c.3925G>A	ENSP00000489407.1:p.Gly1309Arg