Canonical Allele Identifier: CA325579993

Gene: SHANK3

Linked Data

• dbSNP Id: rs895292200
• MyVariant Identifiers: chr22:g.51160506G>A (hg19) ; chr22:g.50722078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722078G>A , CM000684.2:g.50722078G>A	GRCh38
NC_000022.10:g.51160506G>A , CM000684.1:g.51160506G>A	GRCh37
NC_000022.9:g.49507372G>A	NCBI36
NG_008607.2:g.52724G>A
NG_070230.1:g.57862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3846G>A	ENSP00000489147.2:p.Lys1282=
ENST00000414786.7:n.4430G>A
ENST00000445220.7:c.2898G>A	ENSP00000489407.2:p.Lys966=
ENST00000664402.2:c.2388G>A	ENSP00000499475.1:p.Lys796=
ENST00000673971.2:c.*2844G>A	ENSP00000501192.1:n.*2844G>A
ENST00000445220.6:c.2898G>A	ENSP00000489407.2:p.Lys966=
ENST00000262795.6:c.3846G>A	ENSP00000489147.2:p.Lys1282=
ENST00000664402.1:c.2388G>A	ENSP00000499475.1:p.Lys796=
ENST00000673971.1:c.*2844G>A	ENSP00000501192.1:n.*2844G>A
ENST00000262795.5:c.4242G>A	ENSP00000489147.1:p.Lys1414=
ENST00000414786.6:n.4430G>A
ENST00000445220.5:c.4224G>A	ENSP00000489407.1:p.Lys1408=