Canonical Allele Identifier: CA515258574

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083271632
• gnomAD v3: 22-50720219-C-G
• gnomAD v4: 22-50720219-C-G
• MyVariant Identifiers: chr22:g.51158647C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720219C>G , CM000684.2:g.50720219C>G	GRCh38
NC_000022.10:g.51158647C>G , CM000684.1:g.51158647C>G	GRCh37
NC_000022.9:g.49505513C>G	NCBI36
NG_008607.2:g.50865C>G
NG_070230.1:g.56003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1987C>G	ENSP00000489147.2:p.Arg663Gly
ENST00000414786.7:n.2571C>G
ENST00000445220.7:c.1039C>G	ENSP00000489407.2:p.Arg347Gly
ENST00000664402.2:c.529C>G	ENSP00000499475.1:p.Arg177Gly
ENST00000673971.2:c.*985C>G	ENSP00000501192.1:n.*985C>G
ENST00000445220.6:c.1039C>G	ENSP00000489407.2:p.Arg347Gly
ENST00000262795.6:c.1987C>G	ENSP00000489147.2:p.Arg663Gly
ENST00000664402.1:c.529C>G	ENSP00000499475.1:p.Arg177Gly
ENST00000673971.1:c.*985C>G	ENSP00000501192.1:n.*985C>G
ENST00000262795.5:c.2383C>G	ENSP00000489147.1:p.Arg795Gly
ENST00000414786.6:n.2571C>G
ENST00000445220.5:c.2365C>G	ENSP00000489407.1:p.Arg789Gly