Canonical Allele Identifier: CA515262819

Gene: SHANK3

Linked Data

• dbSNP Id: rs1348976949
• gnomAD v2: 22-51159976-C-G
• gnomAD v3: 22-50721548-C-G
• gnomAD v4: 22-50721548-C-G
• MyVariant Identifiers: chr22:g.51159976C>G (hg19) ; chr22:g.50721548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721548C>G , CM000684.2:g.50721548C>G	GRCh38
NC_000022.10:g.51159976C>G , CM000684.1:g.51159976C>G	GRCh37
NC_000022.9:g.49506842C>G	NCBI36
NG_008607.2:g.52194C>G
NG_070230.1:g.57332C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3316C>G	ENSP00000489147.2:p.Pro1106Ala
ENST00000414786.7:n.3900C>G
ENST00000445220.7:c.2368C>G	ENSP00000489407.2:p.Pro790Ala
ENST00000664402.2:c.1858C>G	ENSP00000499475.1:p.Pro620Ala
ENST00000673971.2:c.*2314C>G	ENSP00000501192.1:n.*2314C>G
ENST00000445220.6:c.2368C>G	ENSP00000489407.2:p.Pro790Ala
ENST00000262795.6:c.3316C>G	ENSP00000489147.2:p.Pro1106Ala
ENST00000664402.1:c.1858C>G	ENSP00000499475.1:p.Pro620Ala
ENST00000673971.1:c.*2314C>G	ENSP00000501192.1:n.*2314C>G
ENST00000262795.5:c.3712C>G	ENSP00000489147.1:p.Pro1238Ala
ENST00000414786.6:n.3900C>G
ENST00000445220.5:c.3694C>G	ENSP00000489407.1:p.Pro1232Ala