Canonical Allele Identifier: CA515260510

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159291C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720863C>G , CM000684.2:g.50720863C>G	GRCh38
NC_000022.10:g.51159291C>G , CM000684.1:g.51159291C>G	GRCh37
NC_000022.9:g.49506157C>G	NCBI36
NG_008607.2:g.51509C>G
NG_070230.1:g.56647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2631C>G	ENSP00000489147.2:p.Gly877=
ENST00000414786.7:n.3215C>G
ENST00000445220.7:c.1683C>G	ENSP00000489407.2:p.Gly561=
ENST00000664402.2:c.1173C>G	ENSP00000499475.1:p.Gly391=
ENST00000673971.2:c.*1629C>G	ENSP00000501192.1:n.*1629C>G
ENST00000445220.6:c.1683C>G	ENSP00000489407.2:p.Gly561=
ENST00000262795.6:c.2631C>G	ENSP00000489147.2:p.Gly877=
ENST00000664402.1:c.1173C>G	ENSP00000499475.1:p.Gly391=
ENST00000673971.1:c.*1629C>G	ENSP00000501192.1:n.*1629C>G
ENST00000262795.5:c.3027C>G	ENSP00000489147.1:p.Gly1009=
ENST00000414786.6:n.3215C>G
ENST00000445220.5:c.3009C>G	ENSP00000489407.1:p.Gly1003=