Canonical Allele Identifier: CA515264752

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160631C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722203C>G , CM000684.2:g.50722203C>G	GRCh38
NC_000022.10:g.51160631C>G , CM000684.1:g.51160631C>G	GRCh37
NC_000022.9:g.49507497C>G	NCBI36
NG_008607.2:g.52849C>G
NG_070230.1:g.57987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3971C>G	ENSP00000489147.2:p.Ala1324Gly
ENST00000414786.7:n.4555C>G
ENST00000445220.7:c.3023C>G	ENSP00000489407.2:p.Ala1008Gly
ENST00000664402.2:c.2513C>G	ENSP00000499475.1:p.Ala838Gly
ENST00000673971.2:c.*2969C>G	ENSP00000501192.1:n.*2969C>G
ENST00000445220.6:c.3023C>G	ENSP00000489407.2:p.Ala1008Gly
ENST00000262795.6:c.3971C>G	ENSP00000489147.2:p.Ala1324Gly
ENST00000664402.1:c.2513C>G	ENSP00000499475.1:p.Ala838Gly
ENST00000673971.1:c.*2969C>G	ENSP00000501192.1:n.*2969C>G
ENST00000262795.5:c.4367C>G	ENSP00000489147.1:p.Ala1456Gly
ENST00000414786.6:n.4555C>G
ENST00000445220.5:c.4349C>G	ENSP00000489407.1:p.Ala1450Gly