Canonical Allele Identifier: CA515263278

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2579627
• ClinVar RCV Id: RCV003328062
• MyVariant Identifiers: chr22:g.51160141G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721713G>C , CM000684.2:g.50721713G>C	GRCh38
NC_000022.10:g.51160141G>C , CM000684.1:g.51160141G>C	GRCh37
NC_000022.9:g.49507007G>C	NCBI36
NG_008607.2:g.52359G>C
NG_070230.1:g.57497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3481G>C	ENSP00000489147.2:p.Asp1161His
ENST00000414786.7:n.4065G>C
ENST00000445220.7:c.2533G>C	ENSP00000489407.2:p.Asp845His
ENST00000664402.2:c.2023G>C	ENSP00000499475.1:p.Asp675His
ENST00000673971.2:c.*2479G>C	ENSP00000501192.1:n.*2479G>C
ENST00000445220.6:c.2533G>C	ENSP00000489407.2:p.Asp845His
ENST00000262795.6:c.3481G>C	ENSP00000489147.2:p.Asp1161His
ENST00000664402.1:c.2023G>C	ENSP00000499475.1:p.Asp675His
ENST00000673971.1:c.*2479G>C	ENSP00000501192.1:n.*2479G>C
ENST00000262795.5:c.3877G>C	ENSP00000489147.1:p.Asp1293His
ENST00000414786.6:n.4065G>C
ENST00000445220.5:c.3859G>C	ENSP00000489407.1:p.Asp1287His