Canonical Allele Identifier: CA515263505

Gene: SHANK3

Linked Data

• dbSNP Id: rs1241135737
• gnomAD v2: 22-51160221-C-A
• gnomAD v4: 22-50721793-C-A
• MyVariant Identifiers: chr22:g.51160221C>A (hg19) ; chr22:g.50721793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721793C>A , CM000684.2:g.50721793C>A	GRCh38
NC_000022.10:g.51160221C>A , CM000684.1:g.51160221C>A	GRCh37
NC_000022.9:g.49507087C>A	NCBI36
NG_008607.2:g.52439C>A
NG_070230.1:g.57577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3561C>A	ENSP00000489147.2:p.Ala1187=
ENST00000414786.7:n.4145C>A
ENST00000445220.7:c.2613C>A	ENSP00000489407.2:p.Ala871=
ENST00000664402.2:c.2103C>A	ENSP00000499475.1:p.Ala701=
ENST00000673971.2:c.*2559C>A	ENSP00000501192.1:n.*2559C>A
ENST00000445220.6:c.2613C>A	ENSP00000489407.2:p.Ala871=
ENST00000262795.6:c.3561C>A	ENSP00000489147.2:p.Ala1187=
ENST00000664402.1:c.2103C>A	ENSP00000499475.1:p.Ala701=
ENST00000673971.1:c.*2559C>A	ENSP00000501192.1:n.*2559C>A
ENST00000262795.5:c.3957C>A	ENSP00000489147.1:p.Ala1319=
ENST00000414786.6:n.4145C>A
ENST00000445220.5:c.3939C>A	ENSP00000489407.1:p.Ala1313=