Canonical Allele Identifier: CA515261610

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083284952
• MyVariant Identifiers: chr22:g.51159696T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721268T>G , CM000684.2:g.50721268T>G	GRCh38
NC_000022.10:g.51159696T>G , CM000684.1:g.51159696T>G	GRCh37
NC_000022.9:g.49506562T>G	NCBI36
NG_008607.2:g.51914T>G
NG_070230.1:g.57052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3036T>G	ENSP00000489147.2:p.Asp1012Glu
ENST00000414786.7:n.3620T>G
ENST00000445220.7:c.2088T>G	ENSP00000489407.2:p.Asp696Glu
ENST00000664402.2:c.1578T>G	ENSP00000499475.1:p.Asp526Glu
ENST00000673971.2:c.*2034T>G	ENSP00000501192.1:n.*2034T>G
ENST00000445220.6:c.2088T>G	ENSP00000489407.2:p.Asp696Glu
ENST00000262795.6:c.3036T>G	ENSP00000489147.2:p.Asp1012Glu
ENST00000664402.1:c.1578T>G	ENSP00000499475.1:p.Asp526Glu
ENST00000673971.1:c.*2034T>G	ENSP00000501192.1:n.*2034T>G
ENST00000262795.5:c.3432T>G	ENSP00000489147.1:p.Asp1144Glu
ENST00000414786.6:n.3620T>G
ENST00000445220.5:c.3414T>G	ENSP00000489407.1:p.Asp1138Glu