Canonical Allele Identifier: CA515262950

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083289747
• MyVariant Identifiers: chr22:g.51160018A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721590A>G , CM000684.2:g.50721590A>G	GRCh38
NC_000022.10:g.51160018A>G , CM000684.1:g.51160018A>G	GRCh37
NC_000022.9:g.49506884A>G	NCBI36
NG_008607.2:g.52236A>G
NG_070230.1:g.57374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3358A>G	ENSP00000489147.2:p.Ser1120Gly
ENST00000414786.7:n.3942A>G
ENST00000445220.7:c.2410A>G	ENSP00000489407.2:p.Ser804Gly
ENST00000664402.2:c.1900A>G	ENSP00000499475.1:p.Ser634Gly
ENST00000673971.2:c.*2356A>G	ENSP00000501192.1:n.*2356A>G
ENST00000445220.6:c.2410A>G	ENSP00000489407.2:p.Ser804Gly
ENST00000262795.6:c.3358A>G	ENSP00000489147.2:p.Ser1120Gly
ENST00000664402.1:c.1900A>G	ENSP00000499475.1:p.Ser634Gly
ENST00000673971.1:c.*2356A>G	ENSP00000501192.1:n.*2356A>G
ENST00000262795.5:c.3754A>G	ENSP00000489147.1:p.Ser1252Gly
ENST00000414786.6:n.3942A>G
ENST00000445220.5:c.3736A>G	ENSP00000489407.1:p.Ser1246Gly