Canonical Allele Identifier: CA515263808

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160314T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721886T>G , CM000684.2:g.50721886T>G	GRCh38
NC_000022.10:g.51160314T>G , CM000684.1:g.51160314T>G	GRCh37
NC_000022.9:g.49507180T>G	NCBI36
NG_008607.2:g.52532T>G
NG_070230.1:g.57670T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3654T>G	ENSP00000489147.2:p.Ser1218=
ENST00000414786.7:n.4238T>G
ENST00000445220.7:c.2706T>G	ENSP00000489407.2:p.Ser902=
ENST00000664402.2:c.2196T>G	ENSP00000499475.1:p.Ser732=
ENST00000673971.2:c.*2652T>G	ENSP00000501192.1:n.*2652T>G
ENST00000445220.6:c.2706T>G	ENSP00000489407.2:p.Ser902=
ENST00000262795.6:c.3654T>G	ENSP00000489147.2:p.Ser1218=
ENST00000664402.1:c.2196T>G	ENSP00000499475.1:p.Ser732=
ENST00000673971.1:c.*2652T>G	ENSP00000501192.1:n.*2652T>G
ENST00000262795.5:c.4050T>G	ENSP00000489147.1:p.Ser1350=
ENST00000414786.6:n.4238T>G
ENST00000445220.5:c.4032T>G	ENSP00000489407.1:p.Ser1344=