Canonical Allele Identifier: CA515264441

Gene: SHANK3

Linked Data

• dbSNP Id: rs1346585192
• gnomAD v2: 22-51160532-A-G
• gnomAD v3: 22-50722104-A-G
• gnomAD v4: 22-50722104-A-G
• MyVariant Identifiers: chr22:g.51160532A>G (hg19) ; chr22:g.50722104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722104A>G , CM000684.2:g.50722104A>G	GRCh38
NC_000022.10:g.51160532A>G , CM000684.1:g.51160532A>G	GRCh37
NC_000022.9:g.49507398A>G	NCBI36
NG_008607.2:g.52750A>G
NG_070230.1:g.57888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3872A>G	ENSP00000489147.2:p.Lys1291Arg
ENST00000414786.7:n.4456A>G
ENST00000445220.7:c.2924A>G	ENSP00000489407.2:p.Lys975Arg
ENST00000664402.2:c.2414A>G	ENSP00000499475.1:p.Lys805Arg
ENST00000673971.2:c.*2870A>G	ENSP00000501192.1:n.*2870A>G
ENST00000445220.6:c.2924A>G	ENSP00000489407.2:p.Lys975Arg
ENST00000262795.6:c.3872A>G	ENSP00000489147.2:p.Lys1291Arg
ENST00000664402.1:c.2414A>G	ENSP00000499475.1:p.Lys805Arg
ENST00000673971.1:c.*2870A>G	ENSP00000501192.1:n.*2870A>G
ENST00000262795.5:c.4268A>G	ENSP00000489147.1:p.Lys1423Arg
ENST00000414786.6:n.4456A>G
ENST00000445220.5:c.4250A>G	ENSP00000489407.1:p.Lys1417Arg