Canonical Allele Identifier: CA515263975

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160366C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721938C>T , CM000684.2:g.50721938C>T	GRCh38
NC_000022.10:g.51160366C>T , CM000684.1:g.51160366C>T	GRCh37
NC_000022.9:g.49507232C>T	NCBI36
NG_008607.2:g.52584C>T
NG_070230.1:g.57722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3706C>T	ENSP00000489147.2:p.His1236Tyr
ENST00000414786.7:n.4290C>T
ENST00000445220.7:c.2758C>T	ENSP00000489407.2:p.His920Tyr
ENST00000664402.2:c.2248C>T	ENSP00000499475.1:p.His750Tyr
ENST00000673971.2:c.*2704C>T	ENSP00000501192.1:n.*2704C>T
ENST00000445220.6:c.2758C>T	ENSP00000489407.2:p.His920Tyr
ENST00000262795.6:c.3706C>T	ENSP00000489147.2:p.His1236Tyr
ENST00000664402.1:c.2248C>T	ENSP00000499475.1:p.His750Tyr
ENST00000673971.1:c.*2704C>T	ENSP00000501192.1:n.*2704C>T
ENST00000262795.5:c.4102C>T	ENSP00000489147.1:p.His1368Tyr
ENST00000414786.6:n.4290C>T
ENST00000445220.5:c.4084C>T	ENSP00000489407.1:p.His1362Tyr