Canonical Allele Identifier: CA10326267

Gene: SHANK3

Linked Data

• dbSNP Id: rs202198676
• ExAC: 22:51160618 G / A
• gnomAD v2: 22-51160618-G-A
• gnomAD v3: 22-50722190-G-A
• gnomAD v4: 22-50722190-G-A
• MyVariant Identifiers: chr22:g.51160618G>A (hg19) ; chr22:g.50722190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722190G>A , CM000684.2:g.50722190G>A	GRCh38
NC_000022.10:g.51160618G>A , CM000684.1:g.51160618G>A	GRCh37
NC_000022.9:g.49507484G>A	NCBI36
NG_008607.2:g.52836G>A
NG_070230.1:g.57974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3958G>A	ENSP00000489147.2:p.Gly1320Arg
ENST00000414786.7:n.4542G>A
ENST00000445220.7:c.3010G>A	ENSP00000489407.2:p.Gly1004Arg
ENST00000664402.2:c.2500G>A	ENSP00000499475.1:p.Gly834Arg
ENST00000673971.2:c.*2956G>A	ENSP00000501192.1:n.*2956G>A
ENST00000445220.6:c.3010G>A	ENSP00000489407.2:p.Gly1004Arg
ENST00000262795.6:c.3958G>A	ENSP00000489147.2:p.Gly1320Arg
ENST00000664402.1:c.2500G>A	ENSP00000499475.1:p.Gly834Arg
ENST00000673971.1:c.*2956G>A	ENSP00000501192.1:n.*2956G>A
ENST00000262795.5:c.4354G>A	ENSP00000489147.1:p.Gly1452Arg
ENST00000414786.6:n.4542G>A
ENST00000445220.5:c.4336G>A	ENSP00000489407.1:p.Gly1446Arg