Canonical Allele Identifier: CA515260584

Gene: SHANK3

Linked Data

• dbSNP Id: rs1255696026
• gnomAD v2: 22-51159318-G-A
• gnomAD v4: 22-50720890-G-A
• MyVariant Identifiers: chr22:g.51159318G>A (hg19) ; chr22:g.50720890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720890G>A , CM000684.2:g.50720890G>A	GRCh38
NC_000022.10:g.51159318G>A , CM000684.1:g.51159318G>A	GRCh37
NC_000022.9:g.49506184G>A	NCBI36
NG_008607.2:g.51536G>A
NG_070230.1:g.56674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2658G>A	ENSP00000489147.2:p.Arg886=
ENST00000414786.7:n.3242G>A
ENST00000445220.7:c.1710G>A	ENSP00000489407.2:p.Arg570=
ENST00000664402.2:c.1200G>A	ENSP00000499475.1:p.Arg400=
ENST00000673971.2:c.*1656G>A	ENSP00000501192.1:n.*1656G>A
ENST00000445220.6:c.1710G>A	ENSP00000489407.2:p.Arg570=
ENST00000262795.6:c.2658G>A	ENSP00000489147.2:p.Arg886=
ENST00000664402.1:c.1200G>A	ENSP00000499475.1:p.Arg400=
ENST00000673971.1:c.*1656G>A	ENSP00000501192.1:n.*1656G>A
ENST00000262795.5:c.3054G>A	ENSP00000489147.1:p.Arg1018=
ENST00000414786.6:n.3242G>A
ENST00000445220.5:c.3036G>A	ENSP00000489407.1:p.Arg1012=