Canonical Allele Identifier: CA325580291

Gene: SHANK3

Linked Data

• dbSNP Id: rs889696184
• MyVariant Identifiers: chr22:g.51160667G>A (hg19) ; chr22:g.50722239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722239G>A , CM000684.2:g.50722239G>A	GRCh38
NC_000022.10:g.51160667G>A , CM000684.1:g.51160667G>A	GRCh37
NC_000022.9:g.49507533G>A	NCBI36
NG_008607.2:g.52885G>A
NG_070230.1:g.58023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4007G>A	ENSP00000489147.2:p.Arg1336Lys
ENST00000414786.7:n.4591G>A
ENST00000445220.7:c.3059G>A	ENSP00000489407.2:p.Arg1020Lys
ENST00000664402.2:c.2549G>A	ENSP00000499475.1:p.Arg850Lys
ENST00000673971.2:c.*3005G>A	ENSP00000501192.1:n.*3005G>A
ENST00000445220.6:c.3059G>A	ENSP00000489407.2:p.Arg1020Lys
ENST00000262795.6:c.4007G>A	ENSP00000489147.2:p.Arg1336Lys
ENST00000664402.1:c.2549G>A	ENSP00000499475.1:p.Arg850Lys
ENST00000673971.1:c.*3005G>A	ENSP00000501192.1:n.*3005G>A
ENST00000262795.5:c.4403G>A	ENSP00000489147.1:p.Arg1468Lys
ENST00000414786.6:n.4591G>A
ENST00000445220.5:c.4385G>A	ENSP00000489407.1:p.Arg1462Lys