Canonical Allele Identifier: CA10326202

Gene: SHANK3

Linked Data

• dbSNP Id: rs780041522
• ExAC: 22:51160336 G / A
• gnomAD v2: 22-51160336-G-A
• MyVariant Identifiers: chr22:g.51160336G>A (hg19) ; chr22:g.50721908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721908G>A , CM000684.2:g.50721908G>A	GRCh38
NC_000022.10:g.51160336G>A , CM000684.1:g.51160336G>A	GRCh37
NC_000022.9:g.49507202G>A	NCBI36
NG_008607.2:g.52554G>A
NG_070230.1:g.57692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3676G>A	ENSP00000489147.2:p.Glu1226Lys
ENST00000414786.7:n.4260G>A
ENST00000445220.7:c.2728G>A	ENSP00000489407.2:p.Glu910Lys
ENST00000664402.2:c.2218G>A	ENSP00000499475.1:p.Glu740Lys
ENST00000673971.2:c.*2674G>A	ENSP00000501192.1:n.*2674G>A
ENST00000445220.6:c.2728G>A	ENSP00000489407.2:p.Glu910Lys
ENST00000262795.6:c.3676G>A	ENSP00000489147.2:p.Glu1226Lys
ENST00000664402.1:c.2218G>A	ENSP00000499475.1:p.Glu740Lys
ENST00000673971.1:c.*2674G>A	ENSP00000501192.1:n.*2674G>A
ENST00000262795.5:c.4072G>A	ENSP00000489147.1:p.Glu1358Lys
ENST00000414786.6:n.4260G>A
ENST00000445220.5:c.4054G>A	ENSP00000489407.1:p.Glu1352Lys