Canonical Allele Identifier: CA10325524

Gene: SHANK3

Linked Data

• dbSNP Id: rs747801843
• ExAC: 22:51136069 A / G
• gnomAD v2: 22-51136069-A-G
• gnomAD v4: 22-50697641-A-G
• MyVariant Identifiers: chr22:g.51136069A>G (hg19) ; chr22:g.50697641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697641A>G , CM000684.2:g.50697641A>G	GRCh38
NC_000022.10:g.51136069A>G , CM000684.1:g.51136069A>G	GRCh37
NC_000022.9:g.49482935A>G	NCBI36
NG_008607.2:g.28287A>G
NG_070230.1:g.33506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1025A>G	ENSP00000489147.2:p.Lys342Arg
ENST00000414786.7:n.1609A>G
ENST00000445220.7:c.77A>G	ENSP00000489407.2:p.Lys26Arg
ENST00000673971.2:c.1382A>G	ENSP00000501192.1:p.Lys461Arg
ENST00000445220.6:c.77A>G	ENSP00000489407.2:p.Lys26Arg
ENST00000262795.6:c.1025A>G	ENSP00000489147.2:p.Lys342Arg
ENST00000673971.1:c.1382A>G	ENSP00000501192.1:p.Lys461Arg
ENST00000673995.1:c.78A>G
ENST00000262795.5:c.1421A>G	ENSP00000489147.1:p.Lys474Arg
ENST00000414786.6:n.1609A>G
ENST00000445220.5:c.1403A>G	ENSP00000489407.1:p.Lys468Arg