Canonical Allele Identifier: CA515263773

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1308375
• ClinVar RCV Id: RCV001763287
• dbSNP Id: rs756226608
• MyVariant Identifiers: chr22:g.51160304C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721876C>G , CM000684.2:g.50721876C>G	GRCh38
NC_000022.10:g.51160304C>G , CM000684.1:g.51160304C>G	GRCh37
NC_000022.9:g.49507170C>G	NCBI36
NG_008607.2:g.52522C>G
NG_070230.1:g.57660C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3644C>G	ENSP00000489147.2:p.Ala1215Gly
ENST00000414786.7:n.4228C>G
ENST00000445220.7:c.2696C>G	ENSP00000489407.2:p.Ala899Gly
ENST00000664402.2:c.2186C>G	ENSP00000499475.1:p.Ala729Gly
ENST00000673971.2:c.*2642C>G	ENSP00000501192.1:n.*2642C>G
ENST00000445220.6:c.2696C>G	ENSP00000489407.2:p.Ala899Gly
ENST00000262795.6:c.3644C>G	ENSP00000489147.2:p.Ala1215Gly
ENST00000664402.1:c.2186C>G	ENSP00000499475.1:p.Ala729Gly
ENST00000673971.1:c.*2642C>G	ENSP00000501192.1:n.*2642C>G
ENST00000262795.5:c.4040C>G	ENSP00000489147.1:p.Ala1347Gly
ENST00000414786.6:n.4228C>G
ENST00000445220.5:c.4022C>G	ENSP00000489407.1:p.Ala1341Gly