Canonical Allele Identifier: CA515263247

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160130T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721702T>A , CM000684.2:g.50721702T>A	GRCh38
NC_000022.10:g.51160130T>A , CM000684.1:g.51160130T>A	GRCh37
NC_000022.9:g.49506996T>A	NCBI36
NG_008607.2:g.52348T>A
NG_070230.1:g.57486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3470T>A	ENSP00000489147.2:p.Leu1157Gln
ENST00000414786.7:n.4054T>A
ENST00000445220.7:c.2522T>A	ENSP00000489407.2:p.Leu841Gln
ENST00000664402.2:c.2012T>A	ENSP00000499475.1:p.Leu671Gln
ENST00000673971.2:c.*2468T>A	ENSP00000501192.1:n.*2468T>A
ENST00000445220.6:c.2522T>A	ENSP00000489407.2:p.Leu841Gln
ENST00000262795.6:c.3470T>A	ENSP00000489147.2:p.Leu1157Gln
ENST00000664402.1:c.2012T>A	ENSP00000499475.1:p.Leu671Gln
ENST00000673971.1:c.*2468T>A	ENSP00000501192.1:n.*2468T>A
ENST00000262795.5:c.3866T>A	ENSP00000489147.1:p.Leu1289Gln
ENST00000414786.6:n.4054T>A
ENST00000445220.5:c.3848T>A	ENSP00000489407.1:p.Leu1283Gln