Canonical Allele Identifier: CA515258585

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51158651T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720223T>A , CM000684.2:g.50720223T>A	GRCh38
NC_000022.10:g.51158651T>A , CM000684.1:g.51158651T>A	GRCh37
NC_000022.9:g.49505517T>A	NCBI36
NG_008607.2:g.50869T>A
NG_070230.1:g.56007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1991T>A	ENSP00000489147.2:p.Phe664Tyr
ENST00000414786.7:n.2575T>A
ENST00000445220.7:c.1043T>A	ENSP00000489407.2:p.Phe348Tyr
ENST00000664402.2:c.533T>A	ENSP00000499475.1:p.Phe178Tyr
ENST00000673971.2:c.*989T>A	ENSP00000501192.1:n.*989T>A
ENST00000445220.6:c.1043T>A	ENSP00000489407.2:p.Phe348Tyr
ENST00000262795.6:c.1991T>A	ENSP00000489147.2:p.Phe664Tyr
ENST00000664402.1:c.533T>A	ENSP00000499475.1:p.Phe178Tyr
ENST00000673971.1:c.*989T>A	ENSP00000501192.1:n.*989T>A
ENST00000262795.5:c.2387T>A	ENSP00000489147.1:p.Phe796Tyr
ENST00000414786.6:n.2575T>A
ENST00000445220.5:c.2369T>A	ENSP00000489407.1:p.Phe790Tyr