Canonical Allele Identifier: CA515263772

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721876-C-A
• MyVariant Identifiers: chr22:g.51160304C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721876C>A , CM000684.2:g.50721876C>A	GRCh38
NC_000022.10:g.51160304C>A , CM000684.1:g.51160304C>A	GRCh37
NC_000022.9:g.49507170C>A	NCBI36
NG_008607.2:g.52522C>A
NG_070230.1:g.57660C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3644C>A	ENSP00000489147.2:p.Ala1215Asp
ENST00000414786.7:n.4228C>A
ENST00000445220.7:c.2696C>A	ENSP00000489407.2:p.Ala899Asp
ENST00000664402.2:c.2186C>A	ENSP00000499475.1:p.Ala729Asp
ENST00000673971.2:c.*2642C>A	ENSP00000501192.1:n.*2642C>A
ENST00000445220.6:c.2696C>A	ENSP00000489407.2:p.Ala899Asp
ENST00000262795.6:c.3644C>A	ENSP00000489147.2:p.Ala1215Asp
ENST00000664402.1:c.2186C>A	ENSP00000499475.1:p.Ala729Asp
ENST00000673971.1:c.*2642C>A	ENSP00000501192.1:n.*2642C>A
ENST00000262795.5:c.4040C>A	ENSP00000489147.1:p.Ala1347Asp
ENST00000414786.6:n.4228C>A
ENST00000445220.5:c.4022C>A	ENSP00000489407.1:p.Ala1341Asp