Canonical Allele Identifier: CA515259706

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720589-A-G
• MyVariant Identifiers: chr22:g.51159017A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720589A>G , CM000684.2:g.50720589A>G	GRCh38
NC_000022.10:g.51159017A>G , CM000684.1:g.51159017A>G	GRCh37
NC_000022.9:g.49505883A>G	NCBI36
NG_008607.2:g.51235A>G
NG_070230.1:g.56373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2357A>G	ENSP00000489147.2:p.Lys786Arg
ENST00000414786.7:n.2941A>G
ENST00000445220.7:c.1409A>G	ENSP00000489407.2:p.Lys470Arg
ENST00000664402.2:c.899A>G	ENSP00000499475.1:p.Lys300Arg
ENST00000673971.2:c.*1355A>G	ENSP00000501192.1:n.*1355A>G
ENST00000445220.6:c.1409A>G	ENSP00000489407.2:p.Lys470Arg
ENST00000262795.6:c.2357A>G	ENSP00000489147.2:p.Lys786Arg
ENST00000664402.1:c.899A>G	ENSP00000499475.1:p.Lys300Arg
ENST00000673971.1:c.*1355A>G	ENSP00000501192.1:n.*1355A>G
ENST00000262795.5:c.2753A>G	ENSP00000489147.1:p.Lys918Arg
ENST00000414786.6:n.2941A>G
ENST00000445220.5:c.2735A>G	ENSP00000489407.1:p.Lys912Arg