Canonical Allele Identifier: CA515263241

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160128G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721700G>A , CM000684.2:g.50721700G>A	GRCh38
NC_000022.10:g.51160128G>A , CM000684.1:g.51160128G>A	GRCh37
NC_000022.9:g.49506994G>A	NCBI36
NG_008607.2:g.52346G>A
NG_070230.1:g.57484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3468G>A	ENSP00000489147.2:p.Gln1156=
ENST00000414786.7:n.4052G>A
ENST00000445220.7:c.2520G>A	ENSP00000489407.2:p.Gln840=
ENST00000664402.2:c.2010G>A	ENSP00000499475.1:p.Gln670=
ENST00000673971.2:c.*2466G>A	ENSP00000501192.1:n.*2466G>A
ENST00000445220.6:c.2520G>A	ENSP00000489407.2:p.Gln840=
ENST00000262795.6:c.3468G>A	ENSP00000489147.2:p.Gln1156=
ENST00000664402.1:c.2010G>A	ENSP00000499475.1:p.Gln670=
ENST00000673971.1:c.*2466G>A	ENSP00000501192.1:n.*2466G>A
ENST00000262795.5:c.3864G>A	ENSP00000489147.1:p.Gln1288=
ENST00000414786.6:n.4052G>A
ENST00000445220.5:c.3846G>A	ENSP00000489407.1:p.Gln1282=