Canonical Allele Identifier: CA515264512

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160556C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722128C>A , CM000684.2:g.50722128C>A	GRCh38
NC_000022.10:g.51160556C>A , CM000684.1:g.51160556C>A	GRCh37
NC_000022.9:g.49507422C>A	NCBI36
NG_008607.2:g.52774C>A
NG_070230.1:g.57912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3896C>A	ENSP00000489147.2:p.Pro1299Gln
ENST00000414786.7:n.4480C>A
ENST00000445220.7:c.2948C>A	ENSP00000489407.2:p.Pro983Gln
ENST00000664402.2:c.2438C>A	ENSP00000499475.1:p.Pro813Gln
ENST00000673971.2:c.*2894C>A	ENSP00000501192.1:n.*2894C>A
ENST00000445220.6:c.2948C>A	ENSP00000489407.2:p.Pro983Gln
ENST00000262795.6:c.3896C>A	ENSP00000489147.2:p.Pro1299Gln
ENST00000664402.1:c.2438C>A	ENSP00000499475.1:p.Pro813Gln
ENST00000673971.1:c.*2894C>A	ENSP00000501192.1:n.*2894C>A
ENST00000262795.5:c.4292C>A	ENSP00000489147.1:p.Pro1431Gln
ENST00000414786.6:n.4480C>A
ENST00000445220.5:c.4274C>A	ENSP00000489407.1:p.Pro1425Gln