Canonical Allele Identifier: CA515254857

Gene: SHANK3

Linked Data

• dbSNP Id: rs1270833841
• gnomAD v4: 22-50697570-G-A
• MyVariant Identifiers: chr22:g.51135998G>A (hg19) ; chr22:g.50697570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697570G>A , CM000684.2:g.50697570G>A	GRCh38
NC_000022.10:g.51135998G>A , CM000684.1:g.51135998G>A	GRCh37
NC_000022.9:g.49482864G>A	NCBI36
NG_008607.2:g.28216G>A
NG_070230.1:g.33435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.954G>A	ENSP00000489147.2:p.Ala318=
ENST00000414786.7:n.1538G>A
ENST00000445220.7:c.6G>A	ENSP00000489407.2:p.Ala2=
ENST00000673971.2:c.1311G>A	ENSP00000501192.1:p.Ala437=
ENST00000445220.6:c.6G>A	ENSP00000489407.2:p.Ala2=
ENST00000262795.6:c.954G>A	ENSP00000489147.2:p.Ala318=
ENST00000673971.1:c.1311G>A	ENSP00000501192.1:p.Ala437=
ENST00000673995.1:c.7G>A
ENST00000262795.5:c.1350G>A	ENSP00000489147.1:p.Ala450=
ENST00000414786.6:n.1538G>A
ENST00000445220.5:c.1332G>A	ENSP00000489407.1:p.Ala444=