Canonical Allele Identifier: CA515264957

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160694T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722266T>G , CM000684.2:g.50722266T>G	GRCh38
NC_000022.10:g.51160694T>G , CM000684.1:g.51160694T>G	GRCh37
NC_000022.9:g.49507560T>G	NCBI36
NG_008607.2:g.52912T>G
NG_070230.1:g.58050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4034T>G	ENSP00000489147.2:p.Val1345Gly
ENST00000414786.7:n.4618T>G
ENST00000445220.7:c.3086T>G	ENSP00000489407.2:p.Val1029Gly
ENST00000664402.2:c.2576T>G	ENSP00000499475.1:p.Val859Gly
ENST00000673971.2:c.*3032T>G	ENSP00000501192.1:n.*3032T>G
ENST00000445220.6:c.3086T>G	ENSP00000489407.2:p.Val1029Gly
ENST00000262795.6:c.4034T>G	ENSP00000489147.2:p.Val1345Gly
ENST00000664402.1:c.2576T>G	ENSP00000499475.1:p.Val859Gly
ENST00000673971.1:c.*3032T>G	ENSP00000501192.1:n.*3032T>G
ENST00000262795.5:c.4430T>G	ENSP00000489147.1:p.Val1477Gly
ENST00000414786.6:n.4618T>G
ENST00000445220.5:c.4412T>G	ENSP00000489407.1:p.Val1471Gly