Canonical Allele Identifier: CA515262196

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721377-C-A
• MyVariant Identifiers: chr22:g.51159805C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721377C>A , CM000684.2:g.50721377C>A	GRCh38
NC_000022.10:g.51159805C>A , CM000684.1:g.51159805C>A	GRCh37
NC_000022.9:g.49506671C>A	NCBI36
NG_008607.2:g.52023C>A
NG_070230.1:g.57161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3145C>A	ENSP00000489147.2:p.Arg1049=
ENST00000414786.7:n.3729C>A
ENST00000445220.7:c.2197C>A	ENSP00000489407.2:p.Arg733=
ENST00000664402.2:c.1687C>A	ENSP00000499475.1:p.Arg563=
ENST00000673971.2:c.*2143C>A	ENSP00000501192.1:n.*2143C>A
ENST00000445220.6:c.2197C>A	ENSP00000489407.2:p.Arg733=
ENST00000262795.6:c.3145C>A	ENSP00000489147.2:p.Arg1049=
ENST00000664402.1:c.1687C>A	ENSP00000499475.1:p.Arg563=
ENST00000673971.1:c.*2143C>A	ENSP00000501192.1:n.*2143C>A
ENST00000262795.5:c.3541C>A	ENSP00000489147.1:p.Arg1181=
ENST00000414786.6:n.3729C>A
ENST00000445220.5:c.3523C>A	ENSP00000489407.1:p.Arg1175=