Canonical Allele Identifier: CA515263297

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721720-A-G
• MyVariant Identifiers: chr22:g.51160148A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721720A>G , CM000684.2:g.50721720A>G	GRCh38
NC_000022.10:g.51160148A>G , CM000684.1:g.51160148A>G	GRCh37
NC_000022.9:g.49507014A>G	NCBI36
NG_008607.2:g.52366A>G
NG_070230.1:g.57504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3488A>G	ENSP00000489147.2:p.Glu1163Gly
ENST00000414786.7:n.4072A>G
ENST00000445220.7:c.2540A>G	ENSP00000489407.2:p.Glu847Gly
ENST00000664402.2:c.2030A>G	ENSP00000499475.1:p.Glu677Gly
ENST00000673971.2:c.*2486A>G	ENSP00000501192.1:n.*2486A>G
ENST00000445220.6:c.2540A>G	ENSP00000489407.2:p.Glu847Gly
ENST00000262795.6:c.3488A>G	ENSP00000489147.2:p.Glu1163Gly
ENST00000664402.1:c.2030A>G	ENSP00000499475.1:p.Glu677Gly
ENST00000673971.1:c.*2486A>G	ENSP00000501192.1:n.*2486A>G
ENST00000262795.5:c.3884A>G	ENSP00000489147.1:p.Glu1295Gly
ENST00000414786.6:n.4072A>G
ENST00000445220.5:c.3866A>G	ENSP00000489407.1:p.Glu1289Gly