Canonical Allele Identifier: CA515260601

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720896-G-A
• MyVariant Identifiers: chr22:g.51159324G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720896G>A , CM000684.2:g.50720896G>A	GRCh38
NC_000022.10:g.51159324G>A , CM000684.1:g.51159324G>A	GRCh37
NC_000022.9:g.49506190G>A	NCBI36
NG_008607.2:g.51542G>A
NG_070230.1:g.56680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2664G>A	ENSP00000489147.2:p.Glu888=
ENST00000414786.7:n.3248G>A
ENST00000445220.7:c.1716G>A	ENSP00000489407.2:p.Glu572=
ENST00000664402.2:c.1206G>A	ENSP00000499475.1:p.Glu402=
ENST00000673971.2:c.*1662G>A	ENSP00000501192.1:n.*1662G>A
ENST00000445220.6:c.1716G>A	ENSP00000489407.2:p.Glu572=
ENST00000262795.6:c.2664G>A	ENSP00000489147.2:p.Glu888=
ENST00000664402.1:c.1206G>A	ENSP00000499475.1:p.Glu402=
ENST00000673971.1:c.*1662G>A	ENSP00000501192.1:n.*1662G>A
ENST00000262795.5:c.3060G>A	ENSP00000489147.1:p.Glu1020=
ENST00000414786.6:n.3248G>A
ENST00000445220.5:c.3042G>A	ENSP00000489407.1:p.Glu1014=