Canonical Allele Identifier: CA515259339

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083274269
• MyVariant Identifiers: chr22:g.51158891T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720463T>G , CM000684.2:g.50720463T>G	GRCh38
NC_000022.10:g.51158891T>G , CM000684.1:g.51158891T>G	GRCh37
NC_000022.9:g.49505757T>G	NCBI36
NG_008607.2:g.51109T>G
NG_070230.1:g.56247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2231T>G	ENSP00000489147.2:p.Leu744Arg
ENST00000414786.7:n.2815T>G
ENST00000445220.7:c.1283T>G	ENSP00000489407.2:p.Leu428Arg
ENST00000664402.2:c.773T>G	ENSP00000499475.1:p.Leu258Arg
ENST00000673971.2:c.*1229T>G	ENSP00000501192.1:n.*1229T>G
ENST00000445220.6:c.1283T>G	ENSP00000489407.2:p.Leu428Arg
ENST00000262795.6:c.2231T>G	ENSP00000489147.2:p.Leu744Arg
ENST00000664402.1:c.773T>G	ENSP00000499475.1:p.Leu258Arg
ENST00000673971.1:c.*1229T>G	ENSP00000501192.1:n.*1229T>G
ENST00000262795.5:c.2627T>G	ENSP00000489147.1:p.Leu876Arg
ENST00000414786.6:n.2815T>G
ENST00000445220.5:c.2609T>G	ENSP00000489407.1:p.Leu870Arg