Canonical Allele Identifier: CA515262540

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721470-C-A
• MyVariant Identifiers: chr22:g.51159898C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721470C>A , CM000684.2:g.50721470C>A	GRCh38
NC_000022.10:g.51159898C>A , CM000684.1:g.51159898C>A	GRCh37
NC_000022.9:g.49506764C>A	NCBI36
NG_008607.2:g.52116C>A
NG_070230.1:g.57254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3238C>A	ENSP00000489147.2:p.His1080Asn
ENST00000414786.7:n.3822C>A
ENST00000445220.7:c.2290C>A	ENSP00000489407.2:p.His764Asn
ENST00000664402.2:c.1780C>A	ENSP00000499475.1:p.His594Asn
ENST00000673971.2:c.*2236C>A	ENSP00000501192.1:n.*2236C>A
ENST00000445220.6:c.2290C>A	ENSP00000489407.2:p.His764Asn
ENST00000262795.6:c.3238C>A	ENSP00000489147.2:p.His1080Asn
ENST00000664402.1:c.1780C>A	ENSP00000499475.1:p.His594Asn
ENST00000673971.1:c.*2236C>A	ENSP00000501192.1:n.*2236C>A
ENST00000262795.5:c.3634C>A	ENSP00000489147.1:p.His1212Asn
ENST00000414786.6:n.3822C>A
ENST00000445220.5:c.3616C>A	ENSP00000489407.1:p.His1206Asn