Canonical Allele Identifier: CA515262451

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083287543
• gnomAD v4: 22-50721448-G-A
• MyVariant Identifiers: chr22:g.51159876G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721448G>A , CM000684.2:g.50721448G>A	GRCh38
NC_000022.10:g.51159876G>A , CM000684.1:g.51159876G>A	GRCh37
NC_000022.9:g.49506742G>A	NCBI36
NG_008607.2:g.52094G>A
NG_070230.1:g.57232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3216G>A	ENSP00000489147.2:p.Arg1072=
ENST00000414786.7:n.3800G>A
ENST00000445220.7:c.2268G>A	ENSP00000489407.2:p.Arg756=
ENST00000664402.2:c.1758G>A	ENSP00000499475.1:p.Arg586=
ENST00000673971.2:c.*2214G>A	ENSP00000501192.1:n.*2214G>A
ENST00000445220.6:c.2268G>A	ENSP00000489407.2:p.Arg756=
ENST00000262795.6:c.3216G>A	ENSP00000489147.2:p.Arg1072=
ENST00000664402.1:c.1758G>A	ENSP00000499475.1:p.Arg586=
ENST00000673971.1:c.*2214G>A	ENSP00000501192.1:n.*2214G>A
ENST00000262795.5:c.3612G>A	ENSP00000489147.1:p.Arg1204=
ENST00000414786.6:n.3800G>A
ENST00000445220.5:c.3594G>A	ENSP00000489407.1:p.Arg1198=