Canonical Allele Identifier: CA515261379

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159608A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721180A>G , CM000684.2:g.50721180A>G	GRCh38
NC_000022.10:g.51159608A>G , CM000684.1:g.51159608A>G	GRCh37
NC_000022.9:g.49506474A>G	NCBI36
NG_008607.2:g.51826A>G
NG_070230.1:g.56964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2948A>G	ENSP00000489147.2:p.Glu983Gly
ENST00000414786.7:n.3532A>G
ENST00000445220.7:c.2000A>G	ENSP00000489407.2:p.Glu667Gly
ENST00000664402.2:c.1490A>G	ENSP00000499475.1:p.Glu497Gly
ENST00000673971.2:c.*1946A>G	ENSP00000501192.1:n.*1946A>G
ENST00000445220.6:c.2000A>G	ENSP00000489407.2:p.Glu667Gly
ENST00000262795.6:c.2948A>G	ENSP00000489147.2:p.Glu983Gly
ENST00000664402.1:c.1490A>G	ENSP00000499475.1:p.Glu497Gly
ENST00000673971.1:c.*1946A>G	ENSP00000501192.1:n.*1946A>G
ENST00000262795.5:c.3344A>G	ENSP00000489147.1:p.Glu1115Gly
ENST00000414786.6:n.3532A>G
ENST00000445220.5:c.3326A>G	ENSP00000489407.1:p.Glu1109Gly