Canonical Allele Identifier: CA515264331

Gene: SHANK3

Linked Data

• dbSNP Id: rs1312278816
• gnomAD v2: 22-51160493-C-G
• gnomAD v3: 22-50722065-C-G
• gnomAD v4: 22-50722065-C-G
• MyVariant Identifiers: chr22:g.51160493C>G (hg19) ; chr22:g.50722065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722065C>G , CM000684.2:g.50722065C>G	GRCh38
NC_000022.10:g.51160493C>G , CM000684.1:g.51160493C>G	GRCh37
NC_000022.9:g.49507359C>G	NCBI36
NG_008607.2:g.52711C>G
NG_070230.1:g.57849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3833C>G	ENSP00000489147.2:p.Pro1278Arg
ENST00000414786.7:n.4417C>G
ENST00000445220.7:c.2885C>G	ENSP00000489407.2:p.Pro962Arg
ENST00000664402.2:c.2375C>G	ENSP00000499475.1:p.Pro792Arg
ENST00000673971.2:c.*2831C>G	ENSP00000501192.1:n.*2831C>G
ENST00000445220.6:c.2885C>G	ENSP00000489407.2:p.Pro962Arg
ENST00000262795.6:c.3833C>G	ENSP00000489147.2:p.Pro1278Arg
ENST00000664402.1:c.2375C>G	ENSP00000499475.1:p.Pro792Arg
ENST00000673971.1:c.*2831C>G	ENSP00000501192.1:n.*2831C>G
ENST00000262795.5:c.4229C>G	ENSP00000489147.1:p.Pro1410Arg
ENST00000414786.6:n.4417C>G
ENST00000445220.5:c.4211C>G	ENSP00000489407.1:p.Pro1404Arg