Canonical Allele Identifier: CA10326250

Gene: SHANK3

Linked Data

• dbSNP Id: rs768996426
• ExAC: 22:51160582 G / A
• gnomAD v2: 22-51160582-G-A
• gnomAD v4: 22-50722154-G-A
• MyVariant Identifiers: chr22:g.51160582G>A (hg19) ; chr22:g.50722154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722154G>A , CM000684.2:g.50722154G>A	GRCh38
NC_000022.10:g.51160582G>A , CM000684.1:g.51160582G>A	GRCh37
NC_000022.9:g.49507448G>A	NCBI36
NG_008607.2:g.52800G>A
NG_070230.1:g.57938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3922G>A	ENSP00000489147.2:p.Glu1308Lys
ENST00000414786.7:n.4506G>A
ENST00000445220.7:c.2974G>A	ENSP00000489407.2:p.Glu992Lys
ENST00000664402.2:c.2464G>A	ENSP00000499475.1:p.Glu822Lys
ENST00000673971.2:c.*2920G>A	ENSP00000501192.1:n.*2920G>A
ENST00000445220.6:c.2974G>A	ENSP00000489407.2:p.Glu992Lys
ENST00000262795.6:c.3922G>A	ENSP00000489147.2:p.Glu1308Lys
ENST00000664402.1:c.2464G>A	ENSP00000499475.1:p.Glu822Lys
ENST00000673971.1:c.*2920G>A	ENSP00000501192.1:n.*2920G>A
ENST00000262795.5:c.4318G>A	ENSP00000489147.1:p.Glu1440Lys
ENST00000414786.6:n.4506G>A
ENST00000445220.5:c.4300G>A	ENSP00000489407.1:p.Glu1434Lys