Canonical Allele Identifier: CA515260271

Gene: SHANK3

Linked Data

• dbSNP Id: rs1000364280
• gnomAD v4: 22-50720781-G-A
• MyVariant Identifiers: chr22:g.51159209G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720781G>A , CM000684.2:g.50720781G>A	GRCh38
NC_000022.10:g.51159209G>A , CM000684.1:g.51159209G>A	GRCh37
NC_000022.9:g.49506075G>A	NCBI36
NG_008607.2:g.51427G>A
NG_070230.1:g.56565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2549G>A	ENSP00000489147.2:p.Arg850His
ENST00000414786.7:n.3133G>A
ENST00000445220.7:c.1601G>A	ENSP00000489407.2:p.Arg534His
ENST00000664402.2:c.1091G>A	ENSP00000499475.1:p.Arg364His
ENST00000673971.2:c.*1547G>A	ENSP00000501192.1:n.*1547G>A
ENST00000445220.6:c.1601G>A	ENSP00000489407.2:p.Arg534His
ENST00000262795.6:c.2549G>A	ENSP00000489147.2:p.Arg850His
ENST00000664402.1:c.1091G>A	ENSP00000499475.1:p.Arg364His
ENST00000673971.1:c.*1547G>A	ENSP00000501192.1:n.*1547G>A
ENST00000262795.5:c.2945G>A	ENSP00000489147.1:p.Arg982His
ENST00000414786.6:n.3133G>A
ENST00000445220.5:c.2927G>A	ENSP00000489407.1:p.Arg976His