Canonical Allele Identifier: CA515258701

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51158681T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720253T>A , CM000684.2:g.50720253T>A	GRCh38
NC_000022.10:g.51158681T>A , CM000684.1:g.51158681T>A	GRCh37
NC_000022.9:g.49505547T>A	NCBI36
NG_008607.2:g.50899T>A
NG_070230.1:g.56037T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2021T>A	ENSP00000489147.2:p.Val674Glu
ENST00000414786.7:n.2605T>A
ENST00000445220.7:c.1073T>A	ENSP00000489407.2:p.Val358Glu
ENST00000664402.2:c.563T>A	ENSP00000499475.1:p.Val188Glu
ENST00000673971.2:c.*1019T>A	ENSP00000501192.1:n.*1019T>A
ENST00000445220.6:c.1073T>A	ENSP00000489407.2:p.Val358Glu
ENST00000262795.6:c.2021T>A	ENSP00000489147.2:p.Val674Glu
ENST00000664402.1:c.563T>A	ENSP00000499475.1:p.Val188Glu
ENST00000673971.1:c.*1019T>A	ENSP00000501192.1:n.*1019T>A
ENST00000262795.5:c.2417T>A	ENSP00000489147.1:p.Val806Glu
ENST00000414786.6:n.2605T>A
ENST00000445220.5:c.2399T>A	ENSP00000489407.1:p.Val800Glu