Canonical Allele Identifier: CA515263804

Gene: SHANK3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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