Canonical Allele Identifier: CA10325932

Gene: SHANK3

Linked Data

• dbSNP Id: rs749773988
• ExAC: 22:51159098 A / G
• gnomAD v2: 22-51159098-A-G
• gnomAD v4: 22-50720670-A-G
• MyVariant Identifiers: chr22:g.51159098A>G (hg19) ; chr22:g.50720670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720670A>G , CM000684.2:g.50720670A>G	GRCh38
NC_000022.10:g.51159098A>G , CM000684.1:g.51159098A>G	GRCh37
NC_000022.9:g.49505964A>G	NCBI36
NG_008607.2:g.51316A>G
NG_070230.1:g.56454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2438A>G	ENSP00000489147.2:p.Lys813Arg
ENST00000414786.7:n.3022A>G
ENST00000445220.7:c.1490A>G	ENSP00000489407.2:p.Lys497Arg
ENST00000664402.2:c.980A>G	ENSP00000499475.1:p.Lys327Arg
ENST00000673971.2:c.*1436A>G	ENSP00000501192.1:n.*1436A>G
ENST00000445220.6:c.1490A>G	ENSP00000489407.2:p.Lys497Arg
ENST00000262795.6:c.2438A>G	ENSP00000489147.2:p.Lys813Arg
ENST00000664402.1:c.980A>G	ENSP00000499475.1:p.Lys327Arg
ENST00000673971.1:c.*1436A>G	ENSP00000501192.1:n.*1436A>G
ENST00000262795.5:c.2834A>G	ENSP00000489147.1:p.Lys945Arg
ENST00000414786.6:n.3022A>G
ENST00000445220.5:c.2816A>G	ENSP00000489407.1:p.Lys939Arg