Canonical Allele Identifier: CA515259263

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50720436-C-T
• gnomAD v4: 22-50720436-C-T
• MyVariant Identifiers: chr22:g.51158864C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720436C>T , CM000684.2:g.50720436C>T	GRCh38
NC_000022.10:g.51158864C>T , CM000684.1:g.51158864C>T	GRCh37
NC_000022.9:g.49505730C>T	NCBI36
NG_008607.2:g.51082C>T
NG_070230.1:g.56220C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2204C>T	ENSP00000489147.2:p.Ala735Val
ENST00000414786.7:n.2788C>T
ENST00000445220.7:c.1256C>T	ENSP00000489407.2:p.Ala419Val
ENST00000664402.2:c.746C>T	ENSP00000499475.1:p.Ala249Val
ENST00000673971.2:c.*1202C>T	ENSP00000501192.1:n.*1202C>T
ENST00000445220.6:c.1256C>T	ENSP00000489407.2:p.Ala419Val
ENST00000262795.6:c.2204C>T	ENSP00000489147.2:p.Ala735Val
ENST00000664402.1:c.746C>T	ENSP00000499475.1:p.Ala249Val
ENST00000673971.1:c.*1202C>T	ENSP00000501192.1:n.*1202C>T
ENST00000262795.5:c.2600C>T	ENSP00000489147.1:p.Ala867Val
ENST00000414786.6:n.2788C>T
ENST00000445220.5:c.2582C>T	ENSP00000489407.1:p.Ala861Val