Canonical Allele Identifier: CA515262156

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159793G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721365G>A , CM000684.2:g.50721365G>A	GRCh38
NC_000022.10:g.51159793G>A , CM000684.1:g.51159793G>A	GRCh37
NC_000022.9:g.49506659G>A	NCBI36
NG_008607.2:g.52011G>A
NG_070230.1:g.57149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3133G>A	ENSP00000489147.2:p.Glu1045Lys
ENST00000414786.7:n.3717G>A
ENST00000445220.7:c.2185G>A	ENSP00000489407.2:p.Glu729Lys
ENST00000664402.2:c.1675G>A	ENSP00000499475.1:p.Glu559Lys
ENST00000673971.2:c.*2131G>A	ENSP00000501192.1:n.*2131G>A
ENST00000445220.6:c.2185G>A	ENSP00000489407.2:p.Glu729Lys
ENST00000262795.6:c.3133G>A	ENSP00000489147.2:p.Glu1045Lys
ENST00000664402.1:c.1675G>A	ENSP00000499475.1:p.Glu559Lys
ENST00000673971.1:c.*2131G>A	ENSP00000501192.1:n.*2131G>A
ENST00000262795.5:c.3529G>A	ENSP00000489147.1:p.Glu1177Lys
ENST00000414786.6:n.3717G>A
ENST00000445220.5:c.3511G>A	ENSP00000489407.1:p.Glu1171Lys