Canonical Allele Identifier: CA515261747

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159733T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721305T>G , CM000684.2:g.50721305T>G	GRCh38
NC_000022.10:g.51159733T>G , CM000684.1:g.51159733T>G	GRCh37
NC_000022.9:g.49506599T>G	NCBI36
NG_008607.2:g.51951T>G
NG_070230.1:g.57089T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3073T>G	ENSP00000489147.2:p.Ser1025Ala
ENST00000414786.7:n.3657T>G
ENST00000445220.7:c.2125T>G	ENSP00000489407.2:p.Ser709Ala
ENST00000664402.2:c.1615T>G	ENSP00000499475.1:p.Ser539Ala
ENST00000673971.2:c.*2071T>G	ENSP00000501192.1:n.*2071T>G
ENST00000445220.6:c.2125T>G	ENSP00000489407.2:p.Ser709Ala
ENST00000262795.6:c.3073T>G	ENSP00000489147.2:p.Ser1025Ala
ENST00000664402.1:c.1615T>G	ENSP00000499475.1:p.Ser539Ala
ENST00000673971.1:c.*2071T>G	ENSP00000501192.1:n.*2071T>G
ENST00000262795.5:c.3469T>G	ENSP00000489147.1:p.Ser1157Ala
ENST00000414786.6:n.3657T>G
ENST00000445220.5:c.3451T>G	ENSP00000489407.1:p.Ser1151Ala