Canonical Allele Identifier: CA515261166

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159532T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721104T>A , CM000684.2:g.50721104T>A	GRCh38
NC_000022.10:g.51159532T>A , CM000684.1:g.51159532T>A	GRCh37
NC_000022.9:g.49506398T>A	NCBI36
NG_008607.2:g.51750T>A
NG_070230.1:g.56888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2872T>A	ENSP00000489147.2:p.Ser958Thr
ENST00000414786.7:n.3456T>A
ENST00000445220.7:c.1924T>A	ENSP00000489407.2:p.Ser642Thr
ENST00000664402.2:c.1414T>A	ENSP00000499475.1:p.Ser472Thr
ENST00000673971.2:c.*1870T>A	ENSP00000501192.1:n.*1870T>A
ENST00000445220.6:c.1924T>A	ENSP00000489407.2:p.Ser642Thr
ENST00000262795.6:c.2872T>A	ENSP00000489147.2:p.Ser958Thr
ENST00000664402.1:c.1414T>A	ENSP00000499475.1:p.Ser472Thr
ENST00000673971.1:c.*1870T>A	ENSP00000501192.1:n.*1870T>A
ENST00000262795.5:c.3268T>A	ENSP00000489147.1:p.Ser1090Thr
ENST00000414786.6:n.3456T>A
ENST00000445220.5:c.3250T>A	ENSP00000489407.1:p.Ser1084Thr