Canonical Allele Identifier: CA10326023

Gene: SHANK3

Linked Data

• dbSNP Id: rs759981448
• ExAC: 22:51159674 G / A
• gnomAD v2: 22-51159674-G-A
• gnomAD v4: 22-50721246-G-A
• MyVariant Identifiers: chr22:g.51159674G>A (hg19) ; chr22:g.50721246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721246G>A , CM000684.2:g.50721246G>A	GRCh38
NC_000022.10:g.51159674G>A , CM000684.1:g.51159674G>A	GRCh37
NC_000022.9:g.49506540G>A	NCBI36
NG_008607.2:g.51892G>A
NG_070230.1:g.57030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3014G>A	ENSP00000489147.2:p.Arg1005His
ENST00000414786.7:n.3598G>A
ENST00000445220.7:c.2066G>A	ENSP00000489407.2:p.Arg689His
ENST00000664402.2:c.1556G>A	ENSP00000499475.1:p.Arg519His
ENST00000673971.2:c.*2012G>A	ENSP00000501192.1:n.*2012G>A
ENST00000445220.6:c.2066G>A	ENSP00000489407.2:p.Arg689His
ENST00000262795.6:c.3014G>A	ENSP00000489147.2:p.Arg1005His
ENST00000664402.1:c.1556G>A	ENSP00000499475.1:p.Arg519His
ENST00000673971.1:c.*2012G>A	ENSP00000501192.1:n.*2012G>A
ENST00000262795.5:c.3410G>A	ENSP00000489147.1:p.Arg1137His
ENST00000414786.6:n.3598G>A
ENST00000445220.5:c.3392G>A	ENSP00000489407.1:p.Arg1131His