Canonical Allele Identifier: CA515263000

Gene: SHANK3

Linked Data

• dbSNP Id: rs773890993
• gnomAD v4: 22-50721609-C-G
• MyVariant Identifiers: chr22:g.51160037C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721609C>G , CM000684.2:g.50721609C>G	GRCh38
NC_000022.10:g.51160037C>G , CM000684.1:g.51160037C>G	GRCh37
NC_000022.9:g.49506903C>G	NCBI36
NG_008607.2:g.52255C>G
NG_070230.1:g.57393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3377C>G	ENSP00000489147.2:p.Pro1126Arg
ENST00000414786.7:n.3961C>G
ENST00000445220.7:c.2429C>G	ENSP00000489407.2:p.Pro810Arg
ENST00000664402.2:c.1919C>G	ENSP00000499475.1:p.Pro640Arg
ENST00000673971.2:c.*2375C>G	ENSP00000501192.1:n.*2375C>G
ENST00000445220.6:c.2429C>G	ENSP00000489407.2:p.Pro810Arg
ENST00000262795.6:c.3377C>G	ENSP00000489147.2:p.Pro1126Arg
ENST00000664402.1:c.1919C>G	ENSP00000499475.1:p.Pro640Arg
ENST00000673971.1:c.*2375C>G	ENSP00000501192.1:n.*2375C>G
ENST00000262795.5:c.3773C>G	ENSP00000489147.1:p.Pro1258Arg
ENST00000414786.6:n.3961C>G
ENST00000445220.5:c.3755C>G	ENSP00000489407.1:p.Pro1252Arg