Canonical Allele Identifier: CA515264405

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160519T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722091T>G , CM000684.2:g.50722091T>G	GRCh38
NC_000022.10:g.51160519T>G , CM000684.1:g.51160519T>G	GRCh37
NC_000022.9:g.49507385T>G	NCBI36
NG_008607.2:g.52737T>G
NG_070230.1:g.57875T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3859T>G	ENSP00000489147.2:p.Ser1287Ala
ENST00000414786.7:n.4443T>G
ENST00000445220.7:c.2911T>G	ENSP00000489407.2:p.Ser971Ala
ENST00000664402.2:c.2401T>G	ENSP00000499475.1:p.Ser801Ala
ENST00000673971.2:c.*2857T>G	ENSP00000501192.1:n.*2857T>G
ENST00000445220.6:c.2911T>G	ENSP00000489407.2:p.Ser971Ala
ENST00000262795.6:c.3859T>G	ENSP00000489147.2:p.Ser1287Ala
ENST00000664402.1:c.2401T>G	ENSP00000499475.1:p.Ser801Ala
ENST00000673971.1:c.*2857T>G	ENSP00000501192.1:n.*2857T>G
ENST00000262795.5:c.4255T>G	ENSP00000489147.1:p.Ser1419Ala
ENST00000414786.6:n.4443T>G
ENST00000445220.5:c.4237T>G	ENSP00000489407.1:p.Ser1413Ala