Canonical Allele Identifier: CA325578875

Gene: SHANK3

Linked Data

• dbSNP Id: rs1037012159
• gnomAD v3: 22-50721253-A-G
• gnomAD v4: 22-50721253-A-G
• MyVariant Identifiers: chr22:g.51159681A>G (hg19) ; chr22:g.50721253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721253A>G , CM000684.2:g.50721253A>G	GRCh38
NC_000022.10:g.51159681A>G , CM000684.1:g.51159681A>G	GRCh37
NC_000022.9:g.49506547A>G	NCBI36
NG_008607.2:g.51899A>G
NG_070230.1:g.57037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3021A>G	ENSP00000489147.2:p.Gly1007=
ENST00000414786.7:n.3605A>G
ENST00000445220.7:c.2073A>G	ENSP00000489407.2:p.Gly691=
ENST00000664402.2:c.1563A>G	ENSP00000499475.1:p.Gly521=
ENST00000673971.2:c.*2019A>G	ENSP00000501192.1:n.*2019A>G
ENST00000445220.6:c.2073A>G	ENSP00000489407.2:p.Gly691=
ENST00000262795.6:c.3021A>G	ENSP00000489147.2:p.Gly1007=
ENST00000664402.1:c.1563A>G	ENSP00000499475.1:p.Gly521=
ENST00000673971.1:c.*2019A>G	ENSP00000501192.1:n.*2019A>G
ENST00000262795.5:c.3417A>G	ENSP00000489147.1:p.Gly1139=
ENST00000414786.6:n.3605A>G
ENST00000445220.5:c.3399A>G	ENSP00000489407.1:p.Gly1133=