Canonical Allele Identifier: CA515259219

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51158849T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720421T>A , CM000684.2:g.50720421T>A	GRCh38
NC_000022.10:g.51158849T>A , CM000684.1:g.51158849T>A	GRCh37
NC_000022.9:g.49505715T>A	NCBI36
NG_008607.2:g.51067T>A
NG_070230.1:g.56205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2189T>A	ENSP00000489147.2:p.Leu730Gln
ENST00000414786.7:n.2773T>A
ENST00000445220.7:c.1241T>A	ENSP00000489407.2:p.Leu414Gln
ENST00000664402.2:c.731T>A	ENSP00000499475.1:p.Leu244Gln
ENST00000673971.2:c.*1187T>A	ENSP00000501192.1:n.*1187T>A
ENST00000445220.6:c.1241T>A	ENSP00000489407.2:p.Leu414Gln
ENST00000262795.6:c.2189T>A	ENSP00000489147.2:p.Leu730Gln
ENST00000664402.1:c.731T>A	ENSP00000499475.1:p.Leu244Gln
ENST00000673971.1:c.*1187T>A	ENSP00000501192.1:n.*1187T>A
ENST00000262795.5:c.2585T>A	ENSP00000489147.1:p.Leu862Gln
ENST00000414786.6:n.2773T>A
ENST00000445220.5:c.2567T>A	ENSP00000489407.1:p.Leu856Gln