Canonical Allele Identifier: CA515263353

Gene: SHANK3

Linked Data

• dbSNP Id: rs1238131472
• MyVariant Identifiers: chr22:g.51160168C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721740C>G , CM000684.2:g.50721740C>G	GRCh38
NC_000022.10:g.51160168C>G , CM000684.1:g.51160168C>G	GRCh37
NC_000022.9:g.49507034C>G	NCBI36
NG_008607.2:g.52386C>G
NG_070230.1:g.57524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3508C>G	ENSP00000489147.2:p.Arg1170Gly
ENST00000414786.7:n.4092C>G
ENST00000445220.7:c.2560C>G	ENSP00000489407.2:p.Arg854Gly
ENST00000664402.2:c.2050C>G	ENSP00000499475.1:p.Arg684Gly
ENST00000673971.2:c.*2506C>G	ENSP00000501192.1:n.*2506C>G
ENST00000445220.6:c.2560C>G	ENSP00000489407.2:p.Arg854Gly
ENST00000262795.6:c.3508C>G	ENSP00000489147.2:p.Arg1170Gly
ENST00000664402.1:c.2050C>G	ENSP00000499475.1:p.Arg684Gly
ENST00000673971.1:c.*2506C>G	ENSP00000501192.1:n.*2506C>G
ENST00000262795.5:c.3904C>G	ENSP00000489147.1:p.Arg1302Gly
ENST00000414786.6:n.4092C>G
ENST00000445220.5:c.3886C>G	ENSP00000489407.1:p.Arg1296Gly