Canonical Allele Identifier: CA515263996

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721945-A-G
• MyVariant Identifiers: chr22:g.51160373A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721945A>G , CM000684.2:g.50721945A>G	GRCh38
NC_000022.10:g.51160373A>G , CM000684.1:g.51160373A>G	GRCh37
NC_000022.9:g.49507239A>G	NCBI36
NG_008607.2:g.52591A>G
NG_070230.1:g.57729A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3713A>G	ENSP00000489147.2:p.Glu1238Gly
ENST00000414786.7:n.4297A>G
ENST00000445220.7:c.2765A>G	ENSP00000489407.2:p.Glu922Gly
ENST00000664402.2:c.2255A>G	ENSP00000499475.1:p.Glu752Gly
ENST00000673971.2:c.*2711A>G	ENSP00000501192.1:n.*2711A>G
ENST00000445220.6:c.2765A>G	ENSP00000489407.2:p.Glu922Gly
ENST00000262795.6:c.3713A>G	ENSP00000489147.2:p.Glu1238Gly
ENST00000664402.1:c.2255A>G	ENSP00000499475.1:p.Glu752Gly
ENST00000673971.1:c.*2711A>G	ENSP00000501192.1:n.*2711A>G
ENST00000262795.5:c.4109A>G	ENSP00000489147.1:p.Glu1370Gly
ENST00000414786.6:n.4297A>G
ENST00000445220.5:c.4091A>G	ENSP00000489407.1:p.Glu1364Gly