Canonical Allele Identifier: CA10326242

Gene: SHANK3

Linked Data

• dbSNP Id: rs777435928
• ExAC: 22:51160563 G / A
• gnomAD v2: 22-51160563-G-A
• gnomAD v4: 22-50722135-G-A
• MyVariant Identifiers: chr22:g.51160563G>A (hg19) ; chr22:g.50722135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722135G>A , CM000684.2:g.50722135G>A	GRCh38
NC_000022.10:g.51160563G>A , CM000684.1:g.51160563G>A	GRCh37
NC_000022.9:g.49507429G>A	NCBI36
NG_008607.2:g.52781G>A
NG_070230.1:g.57919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3903G>A	ENSP00000489147.2:p.Leu1301=
ENST00000414786.7:n.4487G>A
ENST00000445220.7:c.2955G>A	ENSP00000489407.2:p.Leu985=
ENST00000664402.2:c.2445G>A	ENSP00000499475.1:p.Leu815=
ENST00000673971.2:c.*2901G>A	ENSP00000501192.1:n.*2901G>A
ENST00000445220.6:c.2955G>A	ENSP00000489407.2:p.Leu985=
ENST00000262795.6:c.3903G>A	ENSP00000489147.2:p.Leu1301=
ENST00000664402.1:c.2445G>A	ENSP00000499475.1:p.Leu815=
ENST00000673971.1:c.*2901G>A	ENSP00000501192.1:n.*2901G>A
ENST00000262795.5:c.4299G>A	ENSP00000489147.1:p.Leu1433=
ENST00000414786.6:n.4487G>A
ENST00000445220.5:c.4281G>A	ENSP00000489407.1:p.Leu1427=