Canonical Allele Identifier: CA515262959

Gene: SHANK3

Linked Data

• dbSNP Id: rs1486022446
• gnomAD v4: 22-50721594-C-A
• MyVariant Identifiers: chr22:g.51160022C>A (hg19) ; chr22:g.50721594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721594C>A , CM000684.2:g.50721594C>A	GRCh38
NC_000022.10:g.51160022C>A , CM000684.1:g.51160022C>A	GRCh37
NC_000022.9:g.49506888C>A	NCBI36
NG_008607.2:g.52240C>A
NG_070230.1:g.57378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3362C>A	ENSP00000489147.2:p.Pro1121His
ENST00000414786.7:n.3946C>A
ENST00000445220.7:c.2414C>A	ENSP00000489407.2:p.Pro805His
ENST00000664402.2:c.1904C>A	ENSP00000499475.1:p.Pro635His
ENST00000673971.2:c.*2360C>A	ENSP00000501192.1:n.*2360C>A
ENST00000445220.6:c.2414C>A	ENSP00000489407.2:p.Pro805His
ENST00000262795.6:c.3362C>A	ENSP00000489147.2:p.Pro1121His
ENST00000664402.1:c.1904C>A	ENSP00000499475.1:p.Pro635His
ENST00000673971.1:c.*2360C>A	ENSP00000501192.1:n.*2360C>A
ENST00000262795.5:c.3758C>A	ENSP00000489147.1:p.Pro1253His
ENST00000414786.6:n.3946C>A
ENST00000445220.5:c.3740C>A	ENSP00000489407.1:p.Pro1247His