Canonical Allele Identifier: CA325578404

Gene: SHANK3

Linked Data

• dbSNP Id: rs920442982
• gnomAD v4: 22-50720899-G-A
• MyVariant Identifiers: chr22:g.51159327G>A (hg19) ; chr22:g.50720899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720899G>A , CM000684.2:g.50720899G>A	GRCh38
NC_000022.10:g.51159327G>A , CM000684.1:g.51159327G>A	GRCh37
NC_000022.9:g.49506193G>A	NCBI36
NG_008607.2:g.51545G>A
NG_070230.1:g.56683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2667G>A	ENSP00000489147.2:p.Glu889=
ENST00000414786.7:n.3251G>A
ENST00000445220.7:c.1719G>A	ENSP00000489407.2:p.Glu573=
ENST00000664402.2:c.1209G>A	ENSP00000499475.1:p.Glu403=
ENST00000673971.2:c.*1665G>A	ENSP00000501192.1:n.*1665G>A
ENST00000445220.6:c.1719G>A	ENSP00000489407.2:p.Glu573=
ENST00000262795.6:c.2667G>A	ENSP00000489147.2:p.Glu889=
ENST00000664402.1:c.1209G>A	ENSP00000499475.1:p.Glu403=
ENST00000673971.1:c.*1665G>A	ENSP00000501192.1:n.*1665G>A
ENST00000262795.5:c.3063G>A	ENSP00000489147.1:p.Glu1021=
ENST00000414786.6:n.3251G>A
ENST00000445220.5:c.3045G>A	ENSP00000489407.1:p.Glu1015=