Canonical Allele Identifier: CA515264815

Gene: SHANK3

Linked Data

• dbSNP Id: rs1460923314
• MyVariant Identifiers: chr22:g.51160651C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722223C>A , CM000684.2:g.50722223C>A	GRCh38
NC_000022.10:g.51160651C>A , CM000684.1:g.51160651C>A	GRCh37
NC_000022.9:g.49507517C>A	NCBI36
NG_008607.2:g.52869C>A
NG_070230.1:g.58007C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3991C>A	ENSP00000489147.2:p.Arg1331Ser
ENST00000414786.7:n.4575C>A
ENST00000445220.7:c.3043C>A	ENSP00000489407.2:p.Arg1015Ser
ENST00000664402.2:c.2533C>A	ENSP00000499475.1:p.Arg845Ser
ENST00000673971.2:c.*2989C>A	ENSP00000501192.1:n.*2989C>A
ENST00000445220.6:c.3043C>A	ENSP00000489407.2:p.Arg1015Ser
ENST00000262795.6:c.3991C>A	ENSP00000489147.2:p.Arg1331Ser
ENST00000664402.1:c.2533C>A	ENSP00000499475.1:p.Arg845Ser
ENST00000673971.1:c.*2989C>A	ENSP00000501192.1:n.*2989C>A
ENST00000262795.5:c.4387C>A	ENSP00000489147.1:p.Arg1463Ser
ENST00000414786.6:n.4575C>A
ENST00000445220.5:c.4369C>A	ENSP00000489407.1:p.Arg1457Ser