Canonical Allele Identifier: CA515263209

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160115T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721687T>A , CM000684.2:g.50721687T>A	GRCh38
NC_000022.10:g.51160115T>A , CM000684.1:g.51160115T>A	GRCh37
NC_000022.9:g.49506981T>A	NCBI36
NG_008607.2:g.52333T>A
NG_070230.1:g.57471T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3455T>A	ENSP00000489147.2:p.Leu1152Gln
ENST00000414786.7:n.4039T>A
ENST00000445220.7:c.2507T>A	ENSP00000489407.2:p.Leu836Gln
ENST00000664402.2:c.1997T>A	ENSP00000499475.1:p.Leu666Gln
ENST00000673971.2:c.*2453T>A	ENSP00000501192.1:n.*2453T>A
ENST00000445220.6:c.2507T>A	ENSP00000489407.2:p.Leu836Gln
ENST00000262795.6:c.3455T>A	ENSP00000489147.2:p.Leu1152Gln
ENST00000664402.1:c.1997T>A	ENSP00000499475.1:p.Leu666Gln
ENST00000673971.1:c.*2453T>A	ENSP00000501192.1:n.*2453T>A
ENST00000262795.5:c.3851T>A	ENSP00000489147.1:p.Leu1284Gln
ENST00000414786.6:n.4039T>A
ENST00000445220.5:c.3833T>A	ENSP00000489407.1:p.Leu1278Gln