Canonical Allele Identifier: CA10326256

Gene: SHANK3

Linked Data

• dbSNP Id: rs767379435
• ExAC: 22:51160592 C / G
• gnomAD v2: 22-51160592-C-G
• MyVariant Identifiers: chr22:g.51160592C>G (hg19) ; chr22:g.50722164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722164C>G , CM000684.2:g.50722164C>G	GRCh38
NC_000022.10:g.51160592C>G , CM000684.1:g.51160592C>G	GRCh37
NC_000022.9:g.49507458C>G	NCBI36
NG_008607.2:g.52810C>G
NG_070230.1:g.57948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3932C>G	ENSP00000489147.2:p.Ala1311Gly
ENST00000414786.7:n.4516C>G
ENST00000445220.7:c.2984C>G	ENSP00000489407.2:p.Ala995Gly
ENST00000664402.2:c.2474C>G	ENSP00000499475.1:p.Ala825Gly
ENST00000673971.2:c.*2930C>G	ENSP00000501192.1:n.*2930C>G
ENST00000445220.6:c.2984C>G	ENSP00000489407.2:p.Ala995Gly
ENST00000262795.6:c.3932C>G	ENSP00000489147.2:p.Ala1311Gly
ENST00000664402.1:c.2474C>G	ENSP00000499475.1:p.Ala825Gly
ENST00000673971.1:c.*2930C>G	ENSP00000501192.1:n.*2930C>G
ENST00000262795.5:c.4328C>G	ENSP00000489147.1:p.Ala1443Gly
ENST00000414786.6:n.4516C>G
ENST00000445220.5:c.4310C>G	ENSP00000489407.1:p.Ala1437Gly