Canonical Allele Identifier: CA515263426

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146832557
• gnomAD v4: 22-50721766-A-G
• MyVariant Identifiers: chr22:g.51160194A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721766A>G , CM000684.2:g.50721766A>G	GRCh38
NC_000022.10:g.51160194A>G , CM000684.1:g.51160194A>G	GRCh37
NC_000022.9:g.49507060A>G	NCBI36
NG_008607.2:g.52412A>G
NG_070230.1:g.57550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3534A>G	ENSP00000489147.2:p.Glu1178=
ENST00000414786.7:n.4118A>G
ENST00000445220.7:c.2586A>G	ENSP00000489407.2:p.Glu862=
ENST00000664402.2:c.2076A>G	ENSP00000499475.1:p.Glu692=
ENST00000673971.2:c.*2532A>G	ENSP00000501192.1:n.*2532A>G
ENST00000445220.6:c.2586A>G	ENSP00000489407.2:p.Glu862=
ENST00000262795.6:c.3534A>G	ENSP00000489147.2:p.Glu1178=
ENST00000664402.1:c.2076A>G	ENSP00000499475.1:p.Glu692=
ENST00000673971.1:c.*2532A>G	ENSP00000501192.1:n.*2532A>G
ENST00000262795.5:c.3930A>G	ENSP00000489147.1:p.Glu1310=
ENST00000414786.6:n.4118A>G
ENST00000445220.5:c.3912A>G	ENSP00000489407.1:p.Glu1304=