Canonical Allele Identifier: CA515263568

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721810-C-G
• MyVariant Identifiers: chr22:g.51160238C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721810C>G , CM000684.2:g.50721810C>G	GRCh38
NC_000022.10:g.51160238C>G , CM000684.1:g.51160238C>G	GRCh37
NC_000022.9:g.49507104C>G	NCBI36
NG_008607.2:g.52456C>G
NG_070230.1:g.57594C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3578C>G	ENSP00000489147.2:p.Pro1193Arg
ENST00000414786.7:n.4162C>G
ENST00000445220.7:c.2630C>G	ENSP00000489407.2:p.Pro877Arg
ENST00000664402.2:c.2120C>G	ENSP00000499475.1:p.Pro707Arg
ENST00000673971.2:c.*2576C>G	ENSP00000501192.1:n.*2576C>G
ENST00000445220.6:c.2630C>G	ENSP00000489407.2:p.Pro877Arg
ENST00000262795.6:c.3578C>G	ENSP00000489147.2:p.Pro1193Arg
ENST00000664402.1:c.2120C>G	ENSP00000499475.1:p.Pro707Arg
ENST00000673971.1:c.*2576C>G	ENSP00000501192.1:n.*2576C>G
ENST00000262795.5:c.3974C>G	ENSP00000489147.1:p.Pro1325Arg
ENST00000414786.6:n.4162C>G
ENST00000445220.5:c.3956C>G	ENSP00000489407.1:p.Pro1319Arg