Canonical Allele Identifier: CA515263956

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721932-G-A
• MyVariant Identifiers: chr22:g.51160360G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721932G>A , CM000684.2:g.50721932G>A	GRCh38
NC_000022.10:g.51160360G>A , CM000684.1:g.51160360G>A	GRCh37
NC_000022.9:g.49507226G>A	NCBI36
NG_008607.2:g.52578G>A
NG_070230.1:g.57716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3700G>A	ENSP00000489147.2:p.Asp1234Asn
ENST00000414786.7:n.4284G>A
ENST00000445220.7:c.2752G>A	ENSP00000489407.2:p.Asp918Asn
ENST00000664402.2:c.2242G>A	ENSP00000499475.1:p.Asp748Asn
ENST00000673971.2:c.*2698G>A	ENSP00000501192.1:n.*2698G>A
ENST00000445220.6:c.2752G>A	ENSP00000489407.2:p.Asp918Asn
ENST00000262795.6:c.3700G>A	ENSP00000489147.2:p.Asp1234Asn
ENST00000664402.1:c.2242G>A	ENSP00000499475.1:p.Asp748Asn
ENST00000673971.1:c.*2698G>A	ENSP00000501192.1:n.*2698G>A
ENST00000262795.5:c.4096G>A	ENSP00000489147.1:p.Asp1366Asn
ENST00000414786.6:n.4284G>A
ENST00000445220.5:c.4078G>A	ENSP00000489407.1:p.Asp1360Asn