Canonical Allele Identifier: CA515259699

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720586-C-A
• MyVariant Identifiers: chr22:g.51159014C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720586C>A , CM000684.2:g.50720586C>A	GRCh38
NC_000022.10:g.51159014C>A , CM000684.1:g.51159014C>A	GRCh37
NC_000022.9:g.49505880C>A	NCBI36
NG_008607.2:g.51232C>A
NG_070230.1:g.56370C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2354C>A	ENSP00000489147.2:p.Pro785His
ENST00000414786.7:n.2938C>A
ENST00000445220.7:c.1406C>A	ENSP00000489407.2:p.Pro469His
ENST00000664402.2:c.896C>A	ENSP00000499475.1:p.Pro299His
ENST00000673971.2:c.*1352C>A	ENSP00000501192.1:n.*1352C>A
ENST00000445220.6:c.1406C>A	ENSP00000489407.2:p.Pro469His
ENST00000262795.6:c.2354C>A	ENSP00000489147.2:p.Pro785His
ENST00000664402.1:c.896C>A	ENSP00000499475.1:p.Pro299His
ENST00000673971.1:c.*1352C>A	ENSP00000501192.1:n.*1352C>A
ENST00000262795.5:c.2750C>A	ENSP00000489147.1:p.Pro917His
ENST00000414786.6:n.2938C>A
ENST00000445220.5:c.2732C>A	ENSP00000489407.1:p.Pro911His