Canonical Allele Identifier: CA515259033

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146829176
• gnomAD v4: 22-50720357-C-T
• MyVariant Identifiers: chr22:g.51158785C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720357C>T , CM000684.2:g.50720357C>T	GRCh38
NC_000022.10:g.51158785C>T , CM000684.1:g.51158785C>T	GRCh37
NC_000022.9:g.49505651C>T	NCBI36
NG_008607.2:g.51003C>T
NG_070230.1:g.56141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2125C>T	ENSP00000489147.2:p.Pro709Ser
ENST00000414786.7:n.2709C>T
ENST00000445220.7:c.1177C>T	ENSP00000489407.2:p.Pro393Ser
ENST00000664402.2:c.667C>T	ENSP00000499475.1:p.Pro223Ser
ENST00000673971.2:c.*1123C>T	ENSP00000501192.1:n.*1123C>T
ENST00000445220.6:c.1177C>T	ENSP00000489407.2:p.Pro393Ser
ENST00000262795.6:c.2125C>T	ENSP00000489147.2:p.Pro709Ser
ENST00000664402.1:c.667C>T	ENSP00000499475.1:p.Pro223Ser
ENST00000673971.1:c.*1123C>T	ENSP00000501192.1:n.*1123C>T
ENST00000262795.5:c.2521C>T	ENSP00000489147.1:p.Pro841Ser
ENST00000414786.6:n.2709C>T
ENST00000445220.5:c.2503C>T	ENSP00000489407.1:p.Pro835Ser