Canonical Allele Identifier: CA515254840

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51135992C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697564C>G , CM000684.2:g.50697564C>G	GRCh38
NC_000022.10:g.51135992C>G , CM000684.1:g.51135992C>G	GRCh37
NC_000022.9:g.49482858C>G	NCBI36
NG_008607.2:g.28210C>G
NG_070230.1:g.33429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948C>G	ENSP00000489147.2:p.Ser316Arg
ENST00000414786.7:n.1532C>G
ENST00000673971.2:c.1305C>G	ENSP00000501192.1:p.Ser435Arg
ENST00000262795.6:c.948C>G	ENSP00000489147.2:p.Ser316Arg
ENST00000673971.1:c.1305C>G	ENSP00000501192.1:p.Ser435Arg
ENST00000673995.1:c.1C>G
ENST00000262795.5:c.1345-1C>G	ENSP00000489147.1:n.1345-1C>G
ENST00000414786.6:n.1532C>G
ENST00000445220.5:c.1326C>G	ENSP00000489407.1:p.Cys442Trp