Canonical Allele Identifier: CA515262290

Gene: SHANK3

Linked Data

• dbSNP Id: rs1440909488
• gnomAD v2: 22-51159834-G-A
• gnomAD v3: 22-50721406-G-A
• gnomAD v4: 22-50721406-G-A
• MyVariant Identifiers: chr22:g.51159834G>A (hg19) ; chr22:g.50721406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721406G>A , CM000684.2:g.50721406G>A	GRCh38
NC_000022.10:g.51159834G>A , CM000684.1:g.51159834G>A	GRCh37
NC_000022.9:g.49506700G>A	NCBI36
NG_008607.2:g.52052G>A
NG_070230.1:g.57190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3174G>A	ENSP00000489147.2:p.Lys1058=
ENST00000414786.7:n.3758G>A
ENST00000445220.7:c.2226G>A	ENSP00000489407.2:p.Lys742=
ENST00000664402.2:c.1716G>A	ENSP00000499475.1:p.Lys572=
ENST00000673971.2:c.*2172G>A	ENSP00000501192.1:n.*2172G>A
ENST00000445220.6:c.2226G>A	ENSP00000489407.2:p.Lys742=
ENST00000262795.6:c.3174G>A	ENSP00000489147.2:p.Lys1058=
ENST00000664402.1:c.1716G>A	ENSP00000499475.1:p.Lys572=
ENST00000673971.1:c.*2172G>A	ENSP00000501192.1:n.*2172G>A
ENST00000262795.5:c.3570G>A	ENSP00000489147.1:p.Lys1190=
ENST00000414786.6:n.3758G>A
ENST00000445220.5:c.3552G>A	ENSP00000489407.1:p.Lys1184=