Canonical Allele Identifier: CA515264839

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160658T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722230T>G , CM000684.2:g.50722230T>G	GRCh38
NC_000022.10:g.51160658T>G , CM000684.1:g.51160658T>G	GRCh37
NC_000022.9:g.49507524T>G	NCBI36
NG_008607.2:g.52876T>G
NG_070230.1:g.58014T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3998T>G	ENSP00000489147.2:p.Leu1333Arg
ENST00000414786.7:n.4582T>G
ENST00000445220.7:c.3050T>G	ENSP00000489407.2:p.Leu1017Arg
ENST00000664402.2:c.2540T>G	ENSP00000499475.1:p.Leu847Arg
ENST00000673971.2:c.*2996T>G	ENSP00000501192.1:n.*2996T>G
ENST00000445220.6:c.3050T>G	ENSP00000489407.2:p.Leu1017Arg
ENST00000262795.6:c.3998T>G	ENSP00000489147.2:p.Leu1333Arg
ENST00000664402.1:c.2540T>G	ENSP00000499475.1:p.Leu847Arg
ENST00000673971.1:c.*2996T>G	ENSP00000501192.1:n.*2996T>G
ENST00000262795.5:c.4394T>G	ENSP00000489147.1:p.Leu1465Arg
ENST00000414786.6:n.4582T>G
ENST00000445220.5:c.4376T>G	ENSP00000489407.1:p.Leu1459Arg