Canonical Allele Identifier: CA515267330

Gene: SHANK3

Linked Data

• dbSNP Id: rs1430830382
• gnomAD v2: 22-51169476-G-A
• gnomAD v4: 22-50731048-G-A
• MyVariant Identifiers: chr22:g.51169476G>A (hg19) ; chr22:g.50731048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731048G>A , CM000684.2:g.50731048G>A	GRCh38
NC_000022.10:g.51169476G>A , CM000684.1:g.51169476G>A	GRCh37
NC_000022.9:g.49516342G>A	NCBI36
NG_008607.2:g.61694G>A
NG_070230.1:g.66832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4560G>A	ENSP00000489147.2:p.Ser1520=
ENST00000414786.7:n.5144G>A
ENST00000445220.7:c.3612G>A	ENSP00000489407.2:p.Ser1204=
ENST00000664402.2:c.3102G>A	ENSP00000499475.1:p.Ser1034=
ENST00000673971.2:c.*3558G>A	ENSP00000501192.1:n.*3558G>A
ENST00000445220.6:c.3612G>A	ENSP00000489407.2:p.Ser1204=
ENST00000262795.6:c.4560G>A	ENSP00000489147.2:p.Ser1520=
ENST00000659388.1:c.375G>A	ENSP00000499632.1:p.Ser125=
ENST00000664402.1:c.3102G>A	ENSP00000499475.1:p.Ser1034=
ENST00000673971.1:c.*3558G>A	ENSP00000501192.1:n.*3558G>A
ENST00000262795.5:c.4929G>A	ENSP00000489147.1:p.Ser1643=
ENST00000414786.6:n.5144G>A
ENST00000445220.5:c.4911G>A	ENSP00000489407.1:p.Ser1637=