Canonical Allele Identifier: CA515263860

Gene: SHANK3

Linked Data

• dbSNP Id: rs1288102103
• gnomAD v2: 22-51160330-G-A
• gnomAD v4: 22-50721902-G-A
• MyVariant Identifiers: chr22:g.51160330G>A (hg19) ; chr22:g.50721902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721902G>A , CM000684.2:g.50721902G>A	GRCh38
NC_000022.10:g.51160330G>A , CM000684.1:g.51160330G>A	GRCh37
NC_000022.9:g.49507196G>A	NCBI36
NG_008607.2:g.52548G>A
NG_070230.1:g.57686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3670G>A	ENSP00000489147.2:p.Val1224Met
ENST00000414786.7:n.4254G>A
ENST00000445220.7:c.2722G>A	ENSP00000489407.2:p.Val908Met
ENST00000664402.2:c.2212G>A	ENSP00000499475.1:p.Val738Met
ENST00000673971.2:c.*2668G>A	ENSP00000501192.1:n.*2668G>A
ENST00000445220.6:c.2722G>A	ENSP00000489407.2:p.Val908Met
ENST00000262795.6:c.3670G>A	ENSP00000489147.2:p.Val1224Met
ENST00000664402.1:c.2212G>A	ENSP00000499475.1:p.Val738Met
ENST00000673971.1:c.*2668G>A	ENSP00000501192.1:n.*2668G>A
ENST00000262795.5:c.4066G>A	ENSP00000489147.1:p.Val1356Met
ENST00000414786.6:n.4254G>A
ENST00000445220.5:c.4048G>A	ENSP00000489407.1:p.Val1350Met