Canonical Allele Identifier: CA515263473

Gene: SHANK3

Linked Data

• dbSNP Id: rs1012310579
• gnomAD v4: 22-50721782-G-A
• MyVariant Identifiers: chr22:g.51160210G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721782G>A , CM000684.2:g.50721782G>A	GRCh38
NC_000022.10:g.51160210G>A , CM000684.1:g.51160210G>A	GRCh37
NC_000022.9:g.49507076G>A	NCBI36
NG_008607.2:g.52428G>A
NG_070230.1:g.57566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3550G>A	ENSP00000489147.2:p.Val1184Ile
ENST00000414786.7:n.4134G>A
ENST00000445220.7:c.2602G>A	ENSP00000489407.2:p.Val868Ile
ENST00000664402.2:c.2092G>A	ENSP00000499475.1:p.Val698Ile
ENST00000673971.2:c.*2548G>A	ENSP00000501192.1:n.*2548G>A
ENST00000445220.6:c.2602G>A	ENSP00000489407.2:p.Val868Ile
ENST00000262795.6:c.3550G>A	ENSP00000489147.2:p.Val1184Ile
ENST00000664402.1:c.2092G>A	ENSP00000499475.1:p.Val698Ile
ENST00000673971.1:c.*2548G>A	ENSP00000501192.1:n.*2548G>A
ENST00000262795.5:c.3946G>A	ENSP00000489147.1:p.Val1316Ile
ENST00000414786.6:n.4134G>A
ENST00000445220.5:c.3928G>A	ENSP00000489407.1:p.Val1310Ile