Canonical Allele Identifier: CA515263977

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160367A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721939A>G , CM000684.2:g.50721939A>G	GRCh38
NC_000022.10:g.51160367A>G , CM000684.1:g.51160367A>G	GRCh37
NC_000022.9:g.49507233A>G	NCBI36
NG_008607.2:g.52585A>G
NG_070230.1:g.57723A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3707A>G	ENSP00000489147.2:p.His1236Arg
ENST00000414786.7:n.4291A>G
ENST00000445220.7:c.2759A>G	ENSP00000489407.2:p.His920Arg
ENST00000664402.2:c.2249A>G	ENSP00000499475.1:p.His750Arg
ENST00000673971.2:c.*2705A>G	ENSP00000501192.1:n.*2705A>G
ENST00000445220.6:c.2759A>G	ENSP00000489407.2:p.His920Arg
ENST00000262795.6:c.3707A>G	ENSP00000489147.2:p.His1236Arg
ENST00000664402.1:c.2249A>G	ENSP00000499475.1:p.His750Arg
ENST00000673971.1:c.*2705A>G	ENSP00000501192.1:n.*2705A>G
ENST00000262795.5:c.4103A>G	ENSP00000489147.1:p.His1368Arg
ENST00000414786.6:n.4291A>G
ENST00000445220.5:c.4085A>G	ENSP00000489407.1:p.His1362Arg