Canonical Allele Identifier: CA515263801

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083293418
• gnomAD v4: 22-50721885-C-G
• MyVariant Identifiers: chr22:g.51160313C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721885C>G , CM000684.2:g.50721885C>G	GRCh38
NC_000022.10:g.51160313C>G , CM000684.1:g.51160313C>G	GRCh37
NC_000022.9:g.49507179C>G	NCBI36
NG_008607.2:g.52531C>G
NG_070230.1:g.57669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3653C>G	ENSP00000489147.2:p.Ser1218Cys
ENST00000414786.7:n.4237C>G
ENST00000445220.7:c.2705C>G	ENSP00000489407.2:p.Ser902Cys
ENST00000664402.2:c.2195C>G	ENSP00000499475.1:p.Ser732Cys
ENST00000673971.2:c.*2651C>G	ENSP00000501192.1:n.*2651C>G
ENST00000445220.6:c.2705C>G	ENSP00000489407.2:p.Ser902Cys
ENST00000262795.6:c.3653C>G	ENSP00000489147.2:p.Ser1218Cys
ENST00000664402.1:c.2195C>G	ENSP00000499475.1:p.Ser732Cys
ENST00000673971.1:c.*2651C>G	ENSP00000501192.1:n.*2651C>G
ENST00000262795.5:c.4049C>G	ENSP00000489147.1:p.Ser1350Cys
ENST00000414786.6:n.4237C>G
ENST00000445220.5:c.4031C>G	ENSP00000489407.1:p.Ser1344Cys