Canonical Allele Identifier: CA10326065

Gene: SHANK3

Linked Data

• dbSNP Id: rs368339401
• ExAC: 22:51159811 G / A
• gnomAD v2: 22-51159811-G-A
• gnomAD v4: 22-50721383-G-A
• MyVariant Identifiers: chr22:g.51159811G>A (hg19) ; chr22:g.50721383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721383G>A , CM000684.2:g.50721383G>A	GRCh38
NC_000022.10:g.51159811G>A , CM000684.1:g.51159811G>A	GRCh37
NC_000022.9:g.49506677G>A	NCBI36
NG_008607.2:g.52029G>A
NG_070230.1:g.57167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3151G>A	ENSP00000489147.2:p.Glu1051Lys
ENST00000414786.7:n.3735G>A
ENST00000445220.7:c.2203G>A	ENSP00000489407.2:p.Glu735Lys
ENST00000664402.2:c.1693G>A	ENSP00000499475.1:p.Glu565Lys
ENST00000673971.2:c.*2149G>A	ENSP00000501192.1:n.*2149G>A
ENST00000445220.6:c.2203G>A	ENSP00000489407.2:p.Glu735Lys
ENST00000262795.6:c.3151G>A	ENSP00000489147.2:p.Glu1051Lys
ENST00000664402.1:c.1693G>A	ENSP00000499475.1:p.Glu565Lys
ENST00000673971.1:c.*2149G>A	ENSP00000501192.1:n.*2149G>A
ENST00000262795.5:c.3547G>A	ENSP00000489147.1:p.Glu1183Lys
ENST00000414786.6:n.3735G>A
ENST00000445220.5:c.3529G>A	ENSP00000489407.1:p.Glu1177Lys