Canonical Allele Identifier: CA515263113

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721655-G-T
• MyVariant Identifiers: chr22:g.51160083G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721655G>T , CM000684.2:g.50721655G>T	GRCh38
NC_000022.10:g.51160083G>T , CM000684.1:g.51160083G>T	GRCh37
NC_000022.9:g.49506949G>T	NCBI36
NG_008607.2:g.52301G>T
NG_070230.1:g.57439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3423G>T	ENSP00000489147.2:p.Glu1141Asp
ENST00000414786.7:n.4007G>T
ENST00000445220.7:c.2475G>T	ENSP00000489407.2:p.Glu825Asp
ENST00000664402.2:c.1965G>T	ENSP00000499475.1:p.Glu655Asp
ENST00000673971.2:c.*2421G>T	ENSP00000501192.1:n.*2421G>T
ENST00000445220.6:c.2475G>T	ENSP00000489407.2:p.Glu825Asp
ENST00000262795.6:c.3423G>T	ENSP00000489147.2:p.Glu1141Asp
ENST00000664402.1:c.1965G>T	ENSP00000499475.1:p.Glu655Asp
ENST00000673971.1:c.*2421G>T	ENSP00000501192.1:n.*2421G>T
ENST00000262795.5:c.3819G>T	ENSP00000489147.1:p.Glu1273Asp
ENST00000414786.6:n.4007G>T
ENST00000445220.5:c.3801G>T	ENSP00000489407.1:p.Glu1267Asp