Canonical Allele Identifier: CA515264481

Gene: SHANK3

Linked Data

• dbSNP Id: rs1251013403
• gnomAD v2: 22-51160547-T-A
• gnomAD v4: 22-50722119-T-A
• MyVariant Identifiers: chr22:g.51160547T>A (hg19) ; chr22:g.50722119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722119T>A , CM000684.2:g.50722119T>A	GRCh38
NC_000022.10:g.51160547T>A , CM000684.1:g.51160547T>A	GRCh37
NC_000022.9:g.49507413T>A	NCBI36
NG_008607.2:g.52765T>A
NG_070230.1:g.57903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3887T>A	ENSP00000489147.2:p.Phe1296Tyr
ENST00000414786.7:n.4471T>A
ENST00000445220.7:c.2939T>A	ENSP00000489407.2:p.Phe980Tyr
ENST00000664402.2:c.2429T>A	ENSP00000499475.1:p.Phe810Tyr
ENST00000673971.2:c.*2885T>A	ENSP00000501192.1:n.*2885T>A
ENST00000445220.6:c.2939T>A	ENSP00000489407.2:p.Phe980Tyr
ENST00000262795.6:c.3887T>A	ENSP00000489147.2:p.Phe1296Tyr
ENST00000664402.1:c.2429T>A	ENSP00000499475.1:p.Phe810Tyr
ENST00000673971.1:c.*2885T>A	ENSP00000501192.1:n.*2885T>A
ENST00000262795.5:c.4283T>A	ENSP00000489147.1:p.Phe1428Tyr
ENST00000414786.6:n.4471T>A
ENST00000445220.5:c.4265T>A	ENSP00000489407.1:p.Phe1422Tyr