Canonical Allele Identifier: CA515254932

Gene: SHANK3

Linked Data

• dbSNP Id: rs1343216936
• gnomAD v2: 22-51136023-C-G
• gnomAD v3: 22-50697595-C-G
• gnomAD v4: 22-50697595-C-G
• MyVariant Identifiers: chr22:g.51136023C>G (hg19) ; chr22:g.50697595C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697595C>G , CM000684.2:g.50697595C>G	GRCh38
NC_000022.10:g.51136023C>G , CM000684.1:g.51136023C>G	GRCh37
NC_000022.9:g.49482889C>G	NCBI36
NG_008607.2:g.28241C>G
NG_070230.1:g.33460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.979C>G	ENSP00000489147.2:p.Pro327Ala
ENST00000414786.7:n.1563C>G
ENST00000445220.7:c.31C>G	ENSP00000489407.2:p.Pro11Ala
ENST00000673971.2:c.1336C>G	ENSP00000501192.1:p.Pro446Ala
ENST00000445220.6:c.31C>G	ENSP00000489407.2:p.Pro11Ala
ENST00000262795.6:c.979C>G	ENSP00000489147.2:p.Pro327Ala
ENST00000673971.1:c.1336C>G	ENSP00000501192.1:p.Pro446Ala
ENST00000673995.1:c.32C>G
ENST00000262795.5:c.1375C>G	ENSP00000489147.1:p.Pro459Ala
ENST00000414786.6:n.1563C>G
ENST00000445220.5:c.1357C>G	ENSP00000489407.1:p.Pro453Ala