Canonical Allele Identifier: CA515260666

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720920-C-A
• MyVariant Identifiers: chr22:g.51159348C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720920C>A , CM000684.2:g.50720920C>A	GRCh38
NC_000022.10:g.51159348C>A , CM000684.1:g.51159348C>A	GRCh37
NC_000022.9:g.49506214C>A	NCBI36
NG_008607.2:g.51566C>A
NG_070230.1:g.56704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2688C>A	ENSP00000489147.2:p.Phe896Leu
ENST00000414786.7:n.3272C>A
ENST00000445220.7:c.1740C>A	ENSP00000489407.2:p.Phe580Leu
ENST00000664402.2:c.1230C>A	ENSP00000499475.1:p.Phe410Leu
ENST00000673971.2:c.*1686C>A	ENSP00000501192.1:n.*1686C>A
ENST00000445220.6:c.1740C>A	ENSP00000489407.2:p.Phe580Leu
ENST00000262795.6:c.2688C>A	ENSP00000489147.2:p.Phe896Leu
ENST00000664402.1:c.1230C>A	ENSP00000499475.1:p.Phe410Leu
ENST00000673971.1:c.*1686C>A	ENSP00000501192.1:n.*1686C>A
ENST00000262795.5:c.3084C>A	ENSP00000489147.1:p.Phe1028Leu
ENST00000414786.6:n.3272C>A
ENST00000445220.5:c.3066C>A	ENSP00000489407.1:p.Phe1022Leu