Canonical Allele Identifier: CA515262631

Gene: SHANK3

Linked Data

• dbSNP Id: rs1406852469
• gnomAD v2: 22-51159922-C-G
• gnomAD v4: 22-50721494-C-G
• MyVariant Identifiers: chr22:g.51159922C>G (hg19) ; chr22:g.50721494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721494C>G , CM000684.2:g.50721494C>G	GRCh38
NC_000022.10:g.51159922C>G , CM000684.1:g.51159922C>G	GRCh37
NC_000022.9:g.49506788C>G	NCBI36
NG_008607.2:g.52140C>G
NG_070230.1:g.57278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3262C>G	ENSP00000489147.2:p.Pro1088Ala
ENST00000414786.7:n.3846C>G
ENST00000445220.7:c.2314C>G	ENSP00000489407.2:p.Pro772Ala
ENST00000664402.2:c.1804C>G	ENSP00000499475.1:p.Pro602Ala
ENST00000673971.2:c.*2260C>G	ENSP00000501192.1:n.*2260C>G
ENST00000445220.6:c.2314C>G	ENSP00000489407.2:p.Pro772Ala
ENST00000262795.6:c.3262C>G	ENSP00000489147.2:p.Pro1088Ala
ENST00000664402.1:c.1804C>G	ENSP00000499475.1:p.Pro602Ala
ENST00000673971.1:c.*2260C>G	ENSP00000501192.1:n.*2260C>G
ENST00000262795.5:c.3658C>G	ENSP00000489147.1:p.Pro1220Ala
ENST00000414786.6:n.3846C>G
ENST00000445220.5:c.3640C>G	ENSP00000489407.1:p.Pro1214Ala