Canonical Allele Identifier: CA515260785

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159390T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720962T>G , CM000684.2:g.50720962T>G	GRCh38
NC_000022.10:g.51159390T>G , CM000684.1:g.51159390T>G	GRCh37
NC_000022.9:g.49506256T>G	NCBI36
NG_008607.2:g.51608T>G
NG_070230.1:g.56746T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2730T>G	ENSP00000489147.2:p.Asp910Glu
ENST00000414786.7:n.3314T>G
ENST00000445220.7:c.1782T>G	ENSP00000489407.2:p.Asp594Glu
ENST00000664402.2:c.1272T>G	ENSP00000499475.1:p.Asp424Glu
ENST00000673971.2:c.*1728T>G	ENSP00000501192.1:n.*1728T>G
ENST00000445220.6:c.1782T>G	ENSP00000489407.2:p.Asp594Glu
ENST00000262795.6:c.2730T>G	ENSP00000489147.2:p.Asp910Glu
ENST00000664402.1:c.1272T>G	ENSP00000499475.1:p.Asp424Glu
ENST00000673971.1:c.*1728T>G	ENSP00000501192.1:n.*1728T>G
ENST00000262795.5:c.3126T>G	ENSP00000489147.1:p.Asp1042Glu
ENST00000414786.6:n.3314T>G
ENST00000445220.5:c.3108T>G	ENSP00000489407.1:p.Asp1036Glu