Canonical Allele Identifier: CA10326246

Gene: SHANK3

Linked Data

• dbSNP Id: rs746410566
• ExAC: 22:51160579 A / G
• gnomAD v2: 22-51160579-A-G
• gnomAD v4: 22-50722151-A-G
• MyVariant Identifiers: chr22:g.51160579A>G (hg19) ; chr22:g.50722151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722151A>G , CM000684.2:g.50722151A>G	GRCh38
NC_000022.10:g.51160579A>G , CM000684.1:g.51160579A>G	GRCh37
NC_000022.9:g.49507445A>G	NCBI36
NG_008607.2:g.52797A>G
NG_070230.1:g.57935A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3919A>G	ENSP00000489147.2:p.Ser1307Gly
ENST00000414786.7:n.4503A>G
ENST00000445220.7:c.2971A>G	ENSP00000489407.2:p.Ser991Gly
ENST00000664402.2:c.2461A>G	ENSP00000499475.1:p.Ser821Gly
ENST00000673971.2:c.*2917A>G	ENSP00000501192.1:n.*2917A>G
ENST00000445220.6:c.2971A>G	ENSP00000489407.2:p.Ser991Gly
ENST00000262795.6:c.3919A>G	ENSP00000489147.2:p.Ser1307Gly
ENST00000664402.1:c.2461A>G	ENSP00000499475.1:p.Ser821Gly
ENST00000673971.1:c.*2917A>G	ENSP00000501192.1:n.*2917A>G
ENST00000262795.5:c.4315A>G	ENSP00000489147.1:p.Ser1439Gly
ENST00000414786.6:n.4503A>G
ENST00000445220.5:c.4297A>G	ENSP00000489407.1:p.Ser1433Gly