Canonical Allele Identifier: CA515263937

Gene: SHANK3

Linked Data

• dbSNP Id: rs1162601786
• gnomAD v2: 22-51160353-C-T
• gnomAD v4: 22-50721925-C-T
• MyVariant Identifiers: chr22:g.51160353C>T (hg19) ; chr22:g.50721925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721925C>T , CM000684.2:g.50721925C>T	GRCh38
NC_000022.10:g.51160353C>T , CM000684.1:g.51160353C>T	GRCh37
NC_000022.9:g.49507219C>T	NCBI36
NG_008607.2:g.52571C>T
NG_070230.1:g.57709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3693C>T	ENSP00000489147.2:p.Ser1231=
ENST00000414786.7:n.4277C>T
ENST00000445220.7:c.2745C>T	ENSP00000489407.2:p.Ser915=
ENST00000664402.2:c.2235C>T	ENSP00000499475.1:p.Ser745=
ENST00000673971.2:c.*2691C>T	ENSP00000501192.1:n.*2691C>T
ENST00000445220.6:c.2745C>T	ENSP00000489407.2:p.Ser915=
ENST00000262795.6:c.3693C>T	ENSP00000489147.2:p.Ser1231=
ENST00000664402.1:c.2235C>T	ENSP00000499475.1:p.Ser745=
ENST00000673971.1:c.*2691C>T	ENSP00000501192.1:n.*2691C>T
ENST00000262795.5:c.4089C>T	ENSP00000489147.1:p.Ser1363=
ENST00000414786.6:n.4277C>T
ENST00000445220.5:c.4071C>T	ENSP00000489407.1:p.Ser1357=