Canonical Allele Identifier: CA515264739

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160627T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722199T>G , CM000684.2:g.50722199T>G	GRCh38
NC_000022.10:g.51160627T>G , CM000684.1:g.51160627T>G	GRCh37
NC_000022.9:g.49507493T>G	NCBI36
NG_008607.2:g.52845T>G
NG_070230.1:g.57983T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3967T>G	ENSP00000489147.2:p.Ser1323Ala
ENST00000414786.7:n.4551T>G
ENST00000445220.7:c.3019T>G	ENSP00000489407.2:p.Ser1007Ala
ENST00000664402.2:c.2509T>G	ENSP00000499475.1:p.Ser837Ala
ENST00000673971.2:c.*2965T>G	ENSP00000501192.1:n.*2965T>G
ENST00000445220.6:c.3019T>G	ENSP00000489407.2:p.Ser1007Ala
ENST00000262795.6:c.3967T>G	ENSP00000489147.2:p.Ser1323Ala
ENST00000664402.1:c.2509T>G	ENSP00000499475.1:p.Ser837Ala
ENST00000673971.1:c.*2965T>G	ENSP00000501192.1:n.*2965T>G
ENST00000262795.5:c.4363T>G	ENSP00000489147.1:p.Ser1455Ala
ENST00000414786.6:n.4551T>G
ENST00000445220.5:c.4345T>G	ENSP00000489407.1:p.Ser1449Ala