Canonical Allele Identifier: CA10326273

Gene: SHANK3

Linked Data

• dbSNP Id: rs762975306
• ExAC: 22:51160645 C / T
• gnomAD v2: 22-51160645-C-T
• gnomAD v4: 22-50722217-C-T
• MyVariant Identifiers: chr22:g.51160645C>T (hg19) ; chr22:g.50722217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722217C>T , CM000684.2:g.50722217C>T	GRCh38
NC_000022.10:g.51160645C>T , CM000684.1:g.51160645C>T	GRCh37
NC_000022.9:g.49507511C>T	NCBI36
NG_008607.2:g.52863C>T
NG_070230.1:g.58001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3985C>T	ENSP00000489147.2:p.Arg1329Cys
ENST00000414786.7:n.4569C>T
ENST00000445220.7:c.3037C>T	ENSP00000489407.2:p.Arg1013Cys
ENST00000664402.2:c.2527C>T	ENSP00000499475.1:p.Arg843Cys
ENST00000673971.2:c.*2983C>T	ENSP00000501192.1:n.*2983C>T
ENST00000445220.6:c.3037C>T	ENSP00000489407.2:p.Arg1013Cys
ENST00000262795.6:c.3985C>T	ENSP00000489147.2:p.Arg1329Cys
ENST00000664402.1:c.2527C>T	ENSP00000499475.1:p.Arg843Cys
ENST00000673971.1:c.*2983C>T	ENSP00000501192.1:n.*2983C>T
ENST00000262795.5:c.4381C>T	ENSP00000489147.1:p.Arg1461Cys
ENST00000414786.6:n.4569C>T
ENST00000445220.5:c.4363C>T	ENSP00000489407.1:p.Arg1455Cys