Canonical Allele Identifier: CA515264765

Gene: SHANK3

Linked Data

• dbSNP Id: rs371743889
• gnomAD v2: 22-51160635-C-G
• gnomAD v4: 22-50722207-C-G
• MyVariant Identifiers: chr22:g.51160635C>G (hg19) ; chr22:g.50722207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722207C>G , CM000684.2:g.50722207C>G	GRCh38
NC_000022.10:g.51160635C>G , CM000684.1:g.51160635C>G	GRCh37
NC_000022.9:g.49507501C>G	NCBI36
NG_008607.2:g.52853C>G
NG_070230.1:g.57991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3975C>G	ENSP00000489147.2:p.Ala1325=
ENST00000414786.7:n.4559C>G
ENST00000445220.7:c.3027C>G	ENSP00000489407.2:p.Ala1009=
ENST00000664402.2:c.2517C>G	ENSP00000499475.1:p.Ala839=
ENST00000673971.2:c.*2973C>G	ENSP00000501192.1:n.*2973C>G
ENST00000445220.6:c.3027C>G	ENSP00000489407.2:p.Ala1009=
ENST00000262795.6:c.3975C>G	ENSP00000489147.2:p.Ala1325=
ENST00000664402.1:c.2517C>G	ENSP00000499475.1:p.Ala839=
ENST00000673971.1:c.*2973C>G	ENSP00000501192.1:n.*2973C>G
ENST00000262795.5:c.4371C>G	ENSP00000489147.1:p.Ala1457=
ENST00000414786.6:n.4559C>G
ENST00000445220.5:c.4353C>G	ENSP00000489407.1:p.Ala1451=