Canonical Allele Identifier: CA515255147

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697670-C-G
• MyVariant Identifiers: chr22:g.51136098C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697670C>G , CM000684.2:g.50697670C>G	GRCh38
NC_000022.10:g.51136098C>G , CM000684.1:g.51136098C>G	GRCh37
NC_000022.9:g.49482964C>G	NCBI36
NG_008607.2:g.28316C>G
NG_070230.1:g.33535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1054C>G	ENSP00000489147.2:p.Gln352Glu
ENST00000414786.7:n.1638C>G
ENST00000445220.7:c.106C>G	ENSP00000489407.2:p.Gln36Glu
ENST00000673971.2:c.1411C>G	ENSP00000501192.1:p.Gln471Glu
ENST00000445220.6:c.106C>G	ENSP00000489407.2:p.Gln36Glu
ENST00000262795.6:c.1054C>G	ENSP00000489147.2:p.Gln352Glu
ENST00000673971.1:c.1411C>G	ENSP00000501192.1:p.Gln471Glu
ENST00000673995.1:c.107C>G
ENST00000262795.5:c.1450C>G	ENSP00000489147.1:p.Gln484Glu
ENST00000414786.6:n.1638C>G
ENST00000445220.5:c.1432C>G	ENSP00000489407.1:p.Gln478Glu