Canonical Allele Identifier: CA515259733

Gene: SHANK3

Linked Data

• dbSNP Id: rs1413702601
• gnomAD v3: 22-50720598-C-A
• gnomAD v4: 22-50720598-C-A
• MyVariant Identifiers: chr22:g.51159026C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720598C>A , CM000684.2:g.50720598C>A	GRCh38
NC_000022.10:g.51159026C>A , CM000684.1:g.51159026C>A	GRCh37
NC_000022.9:g.49505892C>A	NCBI36
NG_008607.2:g.51244C>A
NG_070230.1:g.56382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2366C>A	ENSP00000489147.2:p.Pro789Gln
ENST00000414786.7:n.2950C>A
ENST00000445220.7:c.1418C>A	ENSP00000489407.2:p.Pro473Gln
ENST00000664402.2:c.908C>A	ENSP00000499475.1:p.Pro303Gln
ENST00000673971.2:c.*1364C>A	ENSP00000501192.1:n.*1364C>A
ENST00000445220.6:c.1418C>A	ENSP00000489407.2:p.Pro473Gln
ENST00000262795.6:c.2366C>A	ENSP00000489147.2:p.Pro789Gln
ENST00000664402.1:c.908C>A	ENSP00000499475.1:p.Pro303Gln
ENST00000673971.1:c.*1364C>A	ENSP00000501192.1:n.*1364C>A
ENST00000262795.5:c.2762C>A	ENSP00000489147.1:p.Pro921Gln
ENST00000414786.6:n.2950C>A
ENST00000445220.5:c.2744C>A	ENSP00000489407.1:p.Pro915Gln