Canonical Allele Identifier: CA515263506

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160221C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721793C>G , CM000684.2:g.50721793C>G	GRCh38
NC_000022.10:g.51160221C>G , CM000684.1:g.51160221C>G	GRCh37
NC_000022.9:g.49507087C>G	NCBI36
NG_008607.2:g.52439C>G
NG_070230.1:g.57577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3561C>G	ENSP00000489147.2:p.Ala1187=
ENST00000414786.7:n.4145C>G
ENST00000445220.7:c.2613C>G	ENSP00000489407.2:p.Ala871=
ENST00000664402.2:c.2103C>G	ENSP00000499475.1:p.Ala701=
ENST00000673971.2:c.*2559C>G	ENSP00000501192.1:n.*2559C>G
ENST00000445220.6:c.2613C>G	ENSP00000489407.2:p.Ala871=
ENST00000262795.6:c.3561C>G	ENSP00000489147.2:p.Ala1187=
ENST00000664402.1:c.2103C>G	ENSP00000499475.1:p.Ala701=
ENST00000673971.1:c.*2559C>G	ENSP00000501192.1:n.*2559C>G
ENST00000262795.5:c.3957C>G	ENSP00000489147.1:p.Ala1319=
ENST00000414786.6:n.4145C>G
ENST00000445220.5:c.3939C>G	ENSP00000489407.1:p.Ala1313=