Canonical Allele Identifier: CA10326152

Gene: SHANK3

Linked Data

• dbSNP Id: rs763636536
• ExAC: 22:51160077 C / T
• gnomAD v2: 22-51160077-C-T
• gnomAD v4: 22-50721649-C-T
• MyVariant Identifiers: chr22:g.51160077C>T (hg19) ; chr22:g.50721649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721649C>T , CM000684.2:g.50721649C>T	GRCh38
NC_000022.10:g.51160077C>T , CM000684.1:g.51160077C>T	GRCh37
NC_000022.9:g.49506943C>T	NCBI36
NG_008607.2:g.52295C>T
NG_070230.1:g.57433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3417C>T	ENSP00000489147.2:p.Ser1139=
ENST00000414786.7:n.4001C>T
ENST00000445220.7:c.2469C>T	ENSP00000489407.2:p.Ser823=
ENST00000664402.2:c.1959C>T	ENSP00000499475.1:p.Ser653=
ENST00000673971.2:c.*2415C>T	ENSP00000501192.1:n.*2415C>T
ENST00000445220.6:c.2469C>T	ENSP00000489407.2:p.Ser823=
ENST00000262795.6:c.3417C>T	ENSP00000489147.2:p.Ser1139=
ENST00000664402.1:c.1959C>T	ENSP00000499475.1:p.Ser653=
ENST00000673971.1:c.*2415C>T	ENSP00000501192.1:n.*2415C>T
ENST00000262795.5:c.3813C>T	ENSP00000489147.1:p.Ser1271=
ENST00000414786.6:n.4001C>T
ENST00000445220.5:c.3795C>T	ENSP00000489407.1:p.Ser1265=