Canonical Allele Identifier: CA515260408

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159256T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720828T>G , CM000684.2:g.50720828T>G	GRCh38
NC_000022.10:g.51159256T>G , CM000684.1:g.51159256T>G	GRCh37
NC_000022.9:g.49506122T>G	NCBI36
NG_008607.2:g.51474T>G
NG_070230.1:g.56612T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2596T>G	ENSP00000489147.2:p.Tyr866Asp
ENST00000414786.7:n.3180T>G
ENST00000445220.7:c.1648T>G	ENSP00000489407.2:p.Tyr550Asp
ENST00000664402.2:c.1138T>G	ENSP00000499475.1:p.Tyr380Asp
ENST00000673971.2:c.*1594T>G	ENSP00000501192.1:n.*1594T>G
ENST00000445220.6:c.1648T>G	ENSP00000489407.2:p.Tyr550Asp
ENST00000262795.6:c.2596T>G	ENSP00000489147.2:p.Tyr866Asp
ENST00000664402.1:c.1138T>G	ENSP00000499475.1:p.Tyr380Asp
ENST00000673971.1:c.*1594T>G	ENSP00000501192.1:n.*1594T>G
ENST00000262795.5:c.2992T>G	ENSP00000489147.1:p.Tyr998Asp
ENST00000414786.6:n.3180T>G
ENST00000445220.5:c.2974T>G	ENSP00000489407.1:p.Tyr992Asp