Canonical Allele Identifier: CA10326135

Gene: SHANK3

Linked Data

• dbSNP Id: rs764722399
• ExAC: 22:51160046 C / T
• gnomAD v2: 22-51160046-C-T
• gnomAD v4: 22-50721618-C-T
• MyVariant Identifiers: chr22:g.51160046C>T (hg19) ; chr22:g.50721618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721618C>T , CM000684.2:g.50721618C>T	GRCh38
NC_000022.10:g.51160046C>T , CM000684.1:g.51160046C>T	GRCh37
NC_000022.9:g.49506912C>T	NCBI36
NG_008607.2:g.52264C>T
NG_070230.1:g.57402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3386C>T	ENSP00000489147.2:p.Thr1129Ile
ENST00000414786.7:n.3970C>T
ENST00000445220.7:c.2438C>T	ENSP00000489407.2:p.Thr813Ile
ENST00000664402.2:c.1928C>T	ENSP00000499475.1:p.Thr643Ile
ENST00000673971.2:c.*2384C>T	ENSP00000501192.1:n.*2384C>T
ENST00000445220.6:c.2438C>T	ENSP00000489407.2:p.Thr813Ile
ENST00000262795.6:c.3386C>T	ENSP00000489147.2:p.Thr1129Ile
ENST00000664402.1:c.1928C>T	ENSP00000499475.1:p.Thr643Ile
ENST00000673971.1:c.*2384C>T	ENSP00000501192.1:n.*2384C>T
ENST00000262795.5:c.3782C>T	ENSP00000489147.1:p.Thr1261Ile
ENST00000414786.6:n.3970C>T
ENST00000445220.5:c.3764C>T	ENSP00000489407.1:p.Thr1255Ile