Canonical Allele Identifier: CA515259024

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720354-C-G
• MyVariant Identifiers: chr22:g.51158782C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720354C>G , CM000684.2:g.50720354C>G	GRCh38
NC_000022.10:g.51158782C>G , CM000684.1:g.51158782C>G	GRCh37
NC_000022.9:g.49505648C>G	NCBI36
NG_008607.2:g.51000C>G
NG_070230.1:g.56138C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2122C>G	ENSP00000489147.2:p.Pro708Ala
ENST00000414786.7:n.2706C>G
ENST00000445220.7:c.1174C>G	ENSP00000489407.2:p.Pro392Ala
ENST00000664402.2:c.664C>G	ENSP00000499475.1:p.Pro222Ala
ENST00000673971.2:c.*1120C>G	ENSP00000501192.1:n.*1120C>G
ENST00000445220.6:c.1174C>G	ENSP00000489407.2:p.Pro392Ala
ENST00000262795.6:c.2122C>G	ENSP00000489147.2:p.Pro708Ala
ENST00000664402.1:c.664C>G	ENSP00000499475.1:p.Pro222Ala
ENST00000673971.1:c.*1120C>G	ENSP00000501192.1:n.*1120C>G
ENST00000262795.5:c.2518C>G	ENSP00000489147.1:p.Pro840Ala
ENST00000414786.6:n.2706C>G
ENST00000445220.5:c.2500C>G	ENSP00000489407.1:p.Pro834Ala