Canonical Allele Identifier: CA515260121

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720728-G-T
• MyVariant Identifiers: chr22:g.51159156G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720728G>T , CM000684.2:g.50720728G>T	GRCh38
NC_000022.10:g.51159156G>T , CM000684.1:g.51159156G>T	GRCh37
NC_000022.9:g.49506022G>T	NCBI36
NG_008607.2:g.51374G>T
NG_070230.1:g.56512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2496G>T	ENSP00000489147.2:p.Glu832Asp
ENST00000414786.7:n.3080G>T
ENST00000445220.7:c.1548G>T	ENSP00000489407.2:p.Glu516Asp
ENST00000664402.2:c.1038G>T	ENSP00000499475.1:p.Glu346Asp
ENST00000673971.2:c.*1494G>T	ENSP00000501192.1:n.*1494G>T
ENST00000445220.6:c.1548G>T	ENSP00000489407.2:p.Glu516Asp
ENST00000262795.6:c.2496G>T	ENSP00000489147.2:p.Glu832Asp
ENST00000664402.1:c.1038G>T	ENSP00000499475.1:p.Glu346Asp
ENST00000673971.1:c.*1494G>T	ENSP00000501192.1:n.*1494G>T
ENST00000262795.5:c.2892G>T	ENSP00000489147.1:p.Glu964Asp
ENST00000414786.6:n.3080G>T
ENST00000445220.5:c.2874G>T	ENSP00000489407.1:p.Glu958Asp