Canonical Allele Identifier: CA515263921

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160348C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721920C>G , CM000684.2:g.50721920C>G	GRCh38
NC_000022.10:g.51160348C>G , CM000684.1:g.51160348C>G	GRCh37
NC_000022.9:g.49507214C>G	NCBI36
NG_008607.2:g.52566C>G
NG_070230.1:g.57704C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3688C>G	ENSP00000489147.2:p.Arg1230Gly
ENST00000414786.7:n.4272C>G
ENST00000445220.7:c.2740C>G	ENSP00000489407.2:p.Arg914Gly
ENST00000664402.2:c.2230C>G	ENSP00000499475.1:p.Arg744Gly
ENST00000673971.2:c.*2686C>G	ENSP00000501192.1:n.*2686C>G
ENST00000445220.6:c.2740C>G	ENSP00000489407.2:p.Arg914Gly
ENST00000262795.6:c.3688C>G	ENSP00000489147.2:p.Arg1230Gly
ENST00000664402.1:c.2230C>G	ENSP00000499475.1:p.Arg744Gly
ENST00000673971.1:c.*2686C>G	ENSP00000501192.1:n.*2686C>G
ENST00000262795.5:c.4084C>G	ENSP00000489147.1:p.Arg1362Gly
ENST00000414786.6:n.4272C>G
ENST00000445220.5:c.4066C>G	ENSP00000489407.1:p.Arg1356Gly