Canonical Allele Identifier: CA515254854

Gene: SHANK3

Linked Data

• dbSNP Id: rs1485435781
• gnomAD v4: 22-50697569-C-A
• MyVariant Identifiers: chr22:g.51135997C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697569C>A , CM000684.2:g.50697569C>A	GRCh38
NC_000022.10:g.51135997C>A , CM000684.1:g.51135997C>A	GRCh37
NC_000022.9:g.49482863C>A	NCBI36
NG_008607.2:g.28215C>A
NG_070230.1:g.33434C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.953C>A	ENSP00000489147.2:p.Ala318Glu
ENST00000414786.7:n.1537C>A
ENST00000445220.7:c.5C>A	ENSP00000489407.2:p.Ala2Glu
ENST00000673971.2:c.1310C>A	ENSP00000501192.1:p.Ala437Glu
ENST00000445220.6:c.5C>A	ENSP00000489407.2:p.Ala2Glu
ENST00000262795.6:c.953C>A	ENSP00000489147.2:p.Ala318Glu
ENST00000673971.1:c.1310C>A	ENSP00000501192.1:p.Ala437Glu
ENST00000673995.1:c.6C>A
ENST00000262795.5:c.1349C>A	ENSP00000489147.1:p.Ala450Glu
ENST00000414786.6:n.1537C>A
ENST00000445220.5:c.1331C>A	ENSP00000489407.1:p.Ala444Glu