Canonical Allele Identifier: CA515261206

Gene: SHANK3

Linked Data

• dbSNP Id: rs1161320499
• gnomAD v3: 22-50721118-C-T
• gnomAD v4: 22-50721118-C-T
• MyVariant Identifiers: chr22:g.51159546C>T (hg19) ; chr22:g.50721118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721118C>T , CM000684.2:g.50721118C>T	GRCh38
NC_000022.10:g.51159546C>T , CM000684.1:g.51159546C>T	GRCh37
NC_000022.9:g.49506412C>T	NCBI36
NG_008607.2:g.51764C>T
NG_070230.1:g.56902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2886C>T	ENSP00000489147.2:p.His962=
ENST00000414786.7:n.3470C>T
ENST00000445220.7:c.1938C>T	ENSP00000489407.2:p.His646=
ENST00000664402.2:c.1428C>T	ENSP00000499475.1:p.His476=
ENST00000673971.2:c.*1884C>T	ENSP00000501192.1:n.*1884C>T
ENST00000445220.6:c.1938C>T	ENSP00000489407.2:p.His646=
ENST00000262795.6:c.2886C>T	ENSP00000489147.2:p.His962=
ENST00000664402.1:c.1428C>T	ENSP00000499475.1:p.His476=
ENST00000673971.1:c.*1884C>T	ENSP00000501192.1:n.*1884C>T
ENST00000262795.5:c.3282C>T	ENSP00000489147.1:p.His1094=
ENST00000414786.6:n.3470C>T
ENST00000445220.5:c.3264C>T	ENSP00000489407.1:p.His1088=