Canonical Allele Identifier: CA515263664

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160271C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721843C>G , CM000684.2:g.50721843C>G	GRCh38
NC_000022.10:g.51160271C>G , CM000684.1:g.51160271C>G	GRCh37
NC_000022.9:g.49507137C>G	NCBI36
NG_008607.2:g.52489C>G
NG_070230.1:g.57627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3611C>G	ENSP00000489147.2:p.Ala1204Gly
ENST00000414786.7:n.4195C>G
ENST00000445220.7:c.2663C>G	ENSP00000489407.2:p.Ala888Gly
ENST00000664402.2:c.2153C>G	ENSP00000499475.1:p.Ala718Gly
ENST00000673971.2:c.*2609C>G	ENSP00000501192.1:n.*2609C>G
ENST00000445220.6:c.2663C>G	ENSP00000489407.2:p.Ala888Gly
ENST00000262795.6:c.3611C>G	ENSP00000489147.2:p.Ala1204Gly
ENST00000664402.1:c.2153C>G	ENSP00000499475.1:p.Ala718Gly
ENST00000673971.1:c.*2609C>G	ENSP00000501192.1:n.*2609C>G
ENST00000262795.5:c.4007C>G	ENSP00000489147.1:p.Ala1336Gly
ENST00000414786.6:n.4195C>G
ENST00000445220.5:c.3989C>G	ENSP00000489407.1:p.Ala1330Gly