Canonical Allele Identifier: CA515259321

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1309978
• ClinVar RCV Id: RCV001757046
• dbSNP Id: rs1326735946
• MyVariant Identifiers: chr22:g.51158885C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720457C>G , CM000684.2:g.50720457C>G	GRCh38
NC_000022.10:g.51158885C>G , CM000684.1:g.51158885C>G	GRCh37
NC_000022.9:g.49505751C>G	NCBI36
NG_008607.2:g.51103C>G
NG_070230.1:g.56241C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2225C>G	ENSP00000489147.2:p.Ala742Gly
ENST00000414786.7:n.2809C>G
ENST00000445220.7:c.1277C>G	ENSP00000489407.2:p.Ala426Gly
ENST00000664402.2:c.767C>G	ENSP00000499475.1:p.Ala256Gly
ENST00000673971.2:c.*1223C>G	ENSP00000501192.1:n.*1223C>G
ENST00000445220.6:c.1277C>G	ENSP00000489407.2:p.Ala426Gly
ENST00000262795.6:c.2225C>G	ENSP00000489147.2:p.Ala742Gly
ENST00000664402.1:c.767C>G	ENSP00000499475.1:p.Ala256Gly
ENST00000673971.1:c.*1223C>G	ENSP00000501192.1:n.*1223C>G
ENST00000262795.5:c.2621C>G	ENSP00000489147.1:p.Ala874Gly
ENST00000414786.6:n.2809C>G
ENST00000445220.5:c.2603C>G	ENSP00000489407.1:p.Ala868Gly