Canonical Allele Identifier: CA515263823

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721891-C-A
• MyVariant Identifiers: chr22:g.51160319C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721891C>A , CM000684.2:g.50721891C>A	GRCh38
NC_000022.10:g.51160319C>A , CM000684.1:g.51160319C>A	GRCh37
NC_000022.9:g.49507185C>A	NCBI36
NG_008607.2:g.52537C>A
NG_070230.1:g.57675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3659C>A	ENSP00000489147.2:p.Ala1220Asp
ENST00000414786.7:n.4243C>A
ENST00000445220.7:c.2711C>A	ENSP00000489407.2:p.Ala904Asp
ENST00000664402.2:c.2201C>A	ENSP00000499475.1:p.Ala734Asp
ENST00000673971.2:c.*2657C>A	ENSP00000501192.1:n.*2657C>A
ENST00000445220.6:c.2711C>A	ENSP00000489407.2:p.Ala904Asp
ENST00000262795.6:c.3659C>A	ENSP00000489147.2:p.Ala1220Asp
ENST00000664402.1:c.2201C>A	ENSP00000499475.1:p.Ala734Asp
ENST00000673971.1:c.*2657C>A	ENSP00000501192.1:n.*2657C>A
ENST00000262795.5:c.4055C>A	ENSP00000489147.1:p.Ala1352Asp
ENST00000414786.6:n.4243C>A
ENST00000445220.5:c.4037C>A	ENSP00000489407.1:p.Ala1346Asp