Canonical Allele Identifier: CA515264848

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160661T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722233T>G , CM000684.2:g.50722233T>G	GRCh38
NC_000022.10:g.51160661T>G , CM000684.1:g.51160661T>G	GRCh37
NC_000022.9:g.49507527T>G	NCBI36
NG_008607.2:g.52879T>G
NG_070230.1:g.58017T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4001T>G	ENSP00000489147.2:p.Phe1334Cys
ENST00000414786.7:n.4585T>G
ENST00000445220.7:c.3053T>G	ENSP00000489407.2:p.Phe1018Cys
ENST00000664402.2:c.2543T>G	ENSP00000499475.1:p.Phe848Cys
ENST00000673971.2:c.*2999T>G	ENSP00000501192.1:n.*2999T>G
ENST00000445220.6:c.3053T>G	ENSP00000489407.2:p.Phe1018Cys
ENST00000262795.6:c.4001T>G	ENSP00000489147.2:p.Phe1334Cys
ENST00000664402.1:c.2543T>G	ENSP00000499475.1:p.Phe848Cys
ENST00000673971.1:c.*2999T>G	ENSP00000501192.1:n.*2999T>G
ENST00000262795.5:c.4397T>G	ENSP00000489147.1:p.Phe1466Cys
ENST00000414786.6:n.4585T>G
ENST00000445220.5:c.4379T>G	ENSP00000489407.1:p.Phe1460Cys