Canonical Allele Identifier: CA10326283

Gene: SHANK3

Linked Data

• dbSNP Id: rs552048572
• ExAC: 22:51160694 T / A
• gnomAD v3: 22-50722266-T-A
• gnomAD v4: 22-50722266-T-A
• MyVariant Identifiers: chr22:g.51160694T>A (hg19) ; chr22:g.50722266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722266T>A , CM000684.2:g.50722266T>A	GRCh38
NC_000022.10:g.51160694T>A , CM000684.1:g.51160694T>A	GRCh37
NC_000022.9:g.49507560T>A	NCBI36
NG_008607.2:g.52912T>A
NG_070230.1:g.58050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4034T>A	ENSP00000489147.2:p.Val1345Glu
ENST00000414786.7:n.4618T>A
ENST00000445220.7:c.3086T>A	ENSP00000489407.2:p.Val1029Glu
ENST00000664402.2:c.2576T>A	ENSP00000499475.1:p.Val859Glu
ENST00000673971.2:c.*3032T>A	ENSP00000501192.1:n.*3032T>A
ENST00000445220.6:c.3086T>A	ENSP00000489407.2:p.Val1029Glu
ENST00000262795.6:c.4034T>A	ENSP00000489147.2:p.Val1345Glu
ENST00000664402.1:c.2576T>A	ENSP00000499475.1:p.Val859Glu
ENST00000673971.1:c.*3032T>A	ENSP00000501192.1:n.*3032T>A
ENST00000262795.5:c.4430T>A	ENSP00000489147.1:p.Val1477Glu
ENST00000414786.6:n.4618T>A
ENST00000445220.5:c.4412T>A	ENSP00000489407.1:p.Val1471Glu