Canonical Allele Identifier: CA325579793

Gene: SHANK3

Linked Data

• dbSNP Id: rs181197604
• gnomAD v3: 22-50721898-T-G
• gnomAD v4: 22-50721898-T-G
• MyVariant Identifiers: chr22:g.51160326T>G (hg19) ; chr22:g.50721898T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721898T>G , CM000684.2:g.50721898T>G	GRCh38
NC_000022.10:g.51160326T>G , CM000684.1:g.51160326T>G	GRCh37
NC_000022.9:g.49507192T>G	NCBI36
NG_008607.2:g.52544T>G
NG_070230.1:g.57682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3666T>G	ENSP00000489147.2:p.Ser1222=
ENST00000414786.7:n.4250T>G
ENST00000445220.7:c.2718T>G	ENSP00000489407.2:p.Ser906=
ENST00000664402.2:c.2208T>G	ENSP00000499475.1:p.Ser736=
ENST00000673971.2:c.*2664T>G	ENSP00000501192.1:n.*2664T>G
ENST00000445220.6:c.2718T>G	ENSP00000489407.2:p.Ser906=
ENST00000262795.6:c.3666T>G	ENSP00000489147.2:p.Ser1222=
ENST00000664402.1:c.2208T>G	ENSP00000499475.1:p.Ser736=
ENST00000673971.1:c.*2664T>G	ENSP00000501192.1:n.*2664T>G
ENST00000262795.5:c.4062T>G	ENSP00000489147.1:p.Ser1354=
ENST00000414786.6:n.4250T>G
ENST00000445220.5:c.4044T>G	ENSP00000489407.1:p.Ser1348=