Canonical Allele Identifier: CA10326167

Gene: SHANK3

Linked Data

• dbSNP Id: rs771957396
• ExAC: 22:51160146 G / A
• gnomAD v2: 22-51160146-G-A
• gnomAD v4: 22-50721718-G-A
• MyVariant Identifiers: chr22:g.51160146G>A (hg19) ; chr22:g.50721718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721718G>A , CM000684.2:g.50721718G>A	GRCh38
NC_000022.10:g.51160146G>A , CM000684.1:g.51160146G>A	GRCh37
NC_000022.9:g.49507012G>A	NCBI36
NG_008607.2:g.52364G>A
NG_070230.1:g.57502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3486G>A	ENSP00000489147.2:p.Glu1162=
ENST00000414786.7:n.4070G>A
ENST00000445220.7:c.2538G>A	ENSP00000489407.2:p.Glu846=
ENST00000664402.2:c.2028G>A	ENSP00000499475.1:p.Glu676=
ENST00000673971.2:c.*2484G>A	ENSP00000501192.1:n.*2484G>A
ENST00000445220.6:c.2538G>A	ENSP00000489407.2:p.Glu846=
ENST00000262795.6:c.3486G>A	ENSP00000489147.2:p.Glu1162=
ENST00000664402.1:c.2028G>A	ENSP00000499475.1:p.Glu676=
ENST00000673971.1:c.*2484G>A	ENSP00000501192.1:n.*2484G>A
ENST00000262795.5:c.3882G>A	ENSP00000489147.1:p.Glu1294=
ENST00000414786.6:n.4070G>A
ENST00000445220.5:c.3864G>A	ENSP00000489407.1:p.Glu1288=