Canonical Allele Identifier: CA515264588

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160578C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722150C>G , CM000684.2:g.50722150C>G	GRCh38
NC_000022.10:g.51160578C>G , CM000684.1:g.51160578C>G	GRCh37
NC_000022.9:g.49507444C>G	NCBI36
NG_008607.2:g.52796C>G
NG_070230.1:g.57934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3918C>G	ENSP00000489147.2:p.Asp1306Glu
ENST00000414786.7:n.4502C>G
ENST00000445220.7:c.2970C>G	ENSP00000489407.2:p.Asp990Glu
ENST00000664402.2:c.2460C>G	ENSP00000499475.1:p.Asp820Glu
ENST00000673971.2:c.*2916C>G	ENSP00000501192.1:n.*2916C>G
ENST00000445220.6:c.2970C>G	ENSP00000489407.2:p.Asp990Glu
ENST00000262795.6:c.3918C>G	ENSP00000489147.2:p.Asp1306Glu
ENST00000664402.1:c.2460C>G	ENSP00000499475.1:p.Asp820Glu
ENST00000673971.1:c.*2916C>G	ENSP00000501192.1:n.*2916C>G
ENST00000262795.5:c.4314C>G	ENSP00000489147.1:p.Asp1438Glu
ENST00000414786.6:n.4502C>G
ENST00000445220.5:c.4296C>G	ENSP00000489407.1:p.Asp1432Glu