Canonical Allele Identifier: CA515263485

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160214T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721786T>A , CM000684.2:g.50721786T>A	GRCh38
NC_000022.10:g.51160214T>A , CM000684.1:g.51160214T>A	GRCh37
NC_000022.9:g.49507080T>A	NCBI36
NG_008607.2:g.52432T>A
NG_070230.1:g.57570T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3554T>A	ENSP00000489147.2:p.Leu1185Gln
ENST00000414786.7:n.4138T>A
ENST00000445220.7:c.2606T>A	ENSP00000489407.2:p.Leu869Gln
ENST00000664402.2:c.2096T>A	ENSP00000499475.1:p.Leu699Gln
ENST00000673971.2:c.*2552T>A	ENSP00000501192.1:n.*2552T>A
ENST00000445220.6:c.2606T>A	ENSP00000489407.2:p.Leu869Gln
ENST00000262795.6:c.3554T>A	ENSP00000489147.2:p.Leu1185Gln
ENST00000664402.1:c.2096T>A	ENSP00000499475.1:p.Leu699Gln
ENST00000673971.1:c.*2552T>A	ENSP00000501192.1:n.*2552T>A
ENST00000262795.5:c.3950T>A	ENSP00000489147.1:p.Leu1317Gln
ENST00000414786.6:n.4138T>A
ENST00000445220.5:c.3932T>A	ENSP00000489407.1:p.Leu1311Gln