Canonical Allele Identifier: CA515264862

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160666A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722238A>G , CM000684.2:g.50722238A>G	GRCh38
NC_000022.10:g.51160666A>G , CM000684.1:g.51160666A>G	GRCh37
NC_000022.9:g.49507532A>G	NCBI36
NG_008607.2:g.52884A>G
NG_070230.1:g.58022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4006A>G	ENSP00000489147.2:p.Arg1336Gly
ENST00000414786.7:n.4590A>G
ENST00000445220.7:c.3058A>G	ENSP00000489407.2:p.Arg1020Gly
ENST00000664402.2:c.2548A>G	ENSP00000499475.1:p.Arg850Gly
ENST00000673971.2:c.*3004A>G	ENSP00000501192.1:n.*3004A>G
ENST00000445220.6:c.3058A>G	ENSP00000489407.2:p.Arg1020Gly
ENST00000262795.6:c.4006A>G	ENSP00000489147.2:p.Arg1336Gly
ENST00000664402.1:c.2548A>G	ENSP00000499475.1:p.Arg850Gly
ENST00000673971.1:c.*3004A>G	ENSP00000501192.1:n.*3004A>G
ENST00000262795.5:c.4402A>G	ENSP00000489147.1:p.Arg1468Gly
ENST00000414786.6:n.4590A>G
ENST00000445220.5:c.4384A>G	ENSP00000489407.1:p.Arg1462Gly