Canonical Allele Identifier: CA515263594

Gene: SHANK3

Linked Data

• dbSNP Id: rs1464985103
• MyVariant Identifiers: chr22:g.51160247C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721819C>G , CM000684.2:g.50721819C>G	GRCh38
NC_000022.10:g.51160247C>G , CM000684.1:g.51160247C>G	GRCh37
NC_000022.9:g.49507113C>G	NCBI36
NG_008607.2:g.52465C>G
NG_070230.1:g.57603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3587C>G	ENSP00000489147.2:p.Ser1196Trp
ENST00000414786.7:n.4171C>G
ENST00000445220.7:c.2639C>G	ENSP00000489407.2:p.Ser880Trp
ENST00000664402.2:c.2129C>G	ENSP00000499475.1:p.Ser710Trp
ENST00000673971.2:c.*2585C>G	ENSP00000501192.1:n.*2585C>G
ENST00000445220.6:c.2639C>G	ENSP00000489407.2:p.Ser880Trp
ENST00000262795.6:c.3587C>G	ENSP00000489147.2:p.Ser1196Trp
ENST00000664402.1:c.2129C>G	ENSP00000499475.1:p.Ser710Trp
ENST00000673971.1:c.*2585C>G	ENSP00000501192.1:n.*2585C>G
ENST00000262795.5:c.3983C>G	ENSP00000489147.1:p.Ser1328Trp
ENST00000414786.6:n.4171C>G
ENST00000445220.5:c.3965C>G	ENSP00000489407.1:p.Ser1322Trp