Canonical Allele Identifier: CA515264617

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160589T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722161T>G , CM000684.2:g.50722161T>G	GRCh38
NC_000022.10:g.51160589T>G , CM000684.1:g.51160589T>G	GRCh37
NC_000022.9:g.49507455T>G	NCBI36
NG_008607.2:g.52807T>G
NG_070230.1:g.57945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3929T>G	ENSP00000489147.2:p.Met1310Arg
ENST00000414786.7:n.4513T>G
ENST00000445220.7:c.2981T>G	ENSP00000489407.2:p.Met994Arg
ENST00000664402.2:c.2471T>G	ENSP00000499475.1:p.Met824Arg
ENST00000673971.2:c.*2927T>G	ENSP00000501192.1:n.*2927T>G
ENST00000445220.6:c.2981T>G	ENSP00000489407.2:p.Met994Arg
ENST00000262795.6:c.3929T>G	ENSP00000489147.2:p.Met1310Arg
ENST00000664402.1:c.2471T>G	ENSP00000499475.1:p.Met824Arg
ENST00000673971.1:c.*2927T>G	ENSP00000501192.1:n.*2927T>G
ENST00000262795.5:c.4325T>G	ENSP00000489147.1:p.Met1442Arg
ENST00000414786.6:n.4513T>G
ENST00000445220.5:c.4307T>G	ENSP00000489407.1:p.Met1436Arg