Canonical Allele Identifier: CA515264520

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160559T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722131T>A , CM000684.2:g.50722131T>A	GRCh38
NC_000022.10:g.51160559T>A , CM000684.1:g.51160559T>A	GRCh37
NC_000022.9:g.49507425T>A	NCBI36
NG_008607.2:g.52777T>A
NG_070230.1:g.57915T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3899T>A	ENSP00000489147.2:p.Leu1300Gln
ENST00000414786.7:n.4483T>A
ENST00000445220.7:c.2951T>A	ENSP00000489407.2:p.Leu984Gln
ENST00000664402.2:c.2441T>A	ENSP00000499475.1:p.Leu814Gln
ENST00000673971.2:c.*2897T>A	ENSP00000501192.1:n.*2897T>A
ENST00000445220.6:c.2951T>A	ENSP00000489407.2:p.Leu984Gln
ENST00000262795.6:c.3899T>A	ENSP00000489147.2:p.Leu1300Gln
ENST00000664402.1:c.2441T>A	ENSP00000499475.1:p.Leu814Gln
ENST00000673971.1:c.*2897T>A	ENSP00000501192.1:n.*2897T>A
ENST00000262795.5:c.4295T>A	ENSP00000489147.1:p.Leu1432Gln
ENST00000414786.6:n.4483T>A
ENST00000445220.5:c.4277T>A	ENSP00000489407.1:p.Leu1426Gln