Canonical Allele Identifier: CA515266935

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51169375T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730947T>G , CM000684.2:g.50730947T>G	GRCh38
NC_000022.10:g.51169375T>G , CM000684.1:g.51169375T>G	GRCh37
NC_000022.9:g.49516241T>G	NCBI36
NG_008607.2:g.61593T>G
NG_070230.1:g.66731T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4459T>G	ENSP00000489147.2:p.Ser1487Ala
ENST00000414786.7:n.5043T>G
ENST00000445220.7:c.3511T>G	ENSP00000489407.2:p.Ser1171Ala
ENST00000664402.2:c.3001T>G	ENSP00000499475.1:p.Ser1001Ala
ENST00000673971.2:c.*3457T>G	ENSP00000501192.1:n.*3457T>G
ENST00000445220.6:c.3511T>G	ENSP00000489407.2:p.Ser1171Ala
ENST00000262795.6:c.4459T>G	ENSP00000489147.2:p.Ser1487Ala
ENST00000659388.1:c.274T>G	ENSP00000499632.1:p.Ser92Ala
ENST00000664402.1:c.3001T>G	ENSP00000499475.1:p.Ser1001Ala
ENST00000673971.1:c.*3457T>G	ENSP00000501192.1:n.*3457T>G
ENST00000262795.5:c.4828T>G	ENSP00000489147.1:p.Ser1610Ala
ENST00000414786.6:n.5043T>G
ENST00000445220.5:c.4810T>G	ENSP00000489407.1:p.Ser1604Ala