Canonical Allele Identifier: CA515264821

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160653C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722225C>A , CM000684.2:g.50722225C>A	GRCh38
NC_000022.10:g.51160653C>A , CM000684.1:g.51160653C>A	GRCh37
NC_000022.9:g.49507519C>A	NCBI36
NG_008607.2:g.52871C>A
NG_070230.1:g.58009C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3993C>A	ENSP00000489147.2:p.Arg1331=
ENST00000414786.7:n.4577C>A
ENST00000445220.7:c.3045C>A	ENSP00000489407.2:p.Arg1015=
ENST00000664402.2:c.2535C>A	ENSP00000499475.1:p.Arg845=
ENST00000673971.2:c.*2991C>A	ENSP00000501192.1:n.*2991C>A
ENST00000445220.6:c.3045C>A	ENSP00000489407.2:p.Arg1015=
ENST00000262795.6:c.3993C>A	ENSP00000489147.2:p.Arg1331=
ENST00000664402.1:c.2535C>A	ENSP00000499475.1:p.Arg845=
ENST00000673971.1:c.*2991C>A	ENSP00000501192.1:n.*2991C>A
ENST00000262795.5:c.4389C>A	ENSP00000489147.1:p.Arg1463=
ENST00000414786.6:n.4577C>A
ENST00000445220.5:c.4371C>A	ENSP00000489407.1:p.Arg1457=