Canonical Allele Identifier: CA515260608

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083279790
• gnomAD v4: 22-50720898-A-G
• MyVariant Identifiers: chr22:g.51159326A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720898A>G , CM000684.2:g.50720898A>G	GRCh38
NC_000022.10:g.51159326A>G , CM000684.1:g.51159326A>G	GRCh37
NC_000022.9:g.49506192A>G	NCBI36
NG_008607.2:g.51544A>G
NG_070230.1:g.56682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2666A>G	ENSP00000489147.2:p.Glu889Gly
ENST00000414786.7:n.3250A>G
ENST00000445220.7:c.1718A>G	ENSP00000489407.2:p.Glu573Gly
ENST00000664402.2:c.1208A>G	ENSP00000499475.1:p.Glu403Gly
ENST00000673971.2:c.*1664A>G	ENSP00000501192.1:n.*1664A>G
ENST00000445220.6:c.1718A>G	ENSP00000489407.2:p.Glu573Gly
ENST00000262795.6:c.2666A>G	ENSP00000489147.2:p.Glu889Gly
ENST00000664402.1:c.1208A>G	ENSP00000499475.1:p.Glu403Gly
ENST00000673971.1:c.*1664A>G	ENSP00000501192.1:n.*1664A>G
ENST00000262795.5:c.3062A>G	ENSP00000489147.1:p.Glu1021Gly
ENST00000414786.6:n.3250A>G
ENST00000445220.5:c.3044A>G	ENSP00000489407.1:p.Glu1015Gly