Canonical Allele Identifier: CA515263875

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160334A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721906A>T , CM000684.2:g.50721906A>T	GRCh38
NC_000022.10:g.51160334A>T , CM000684.1:g.51160334A>T	GRCh37
NC_000022.9:g.49507200A>T	NCBI36
NG_008607.2:g.52552A>T
NG_070230.1:g.57690A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3674A>T	ENSP00000489147.2:p.Glu1225Val
ENST00000414786.7:n.4258A>T
ENST00000445220.7:c.2726A>T	ENSP00000489407.2:p.Glu909Val
ENST00000664402.2:c.2216A>T	ENSP00000499475.1:p.Glu739Val
ENST00000673971.2:c.*2672A>T	ENSP00000501192.1:n.*2672A>T
ENST00000445220.6:c.2726A>T	ENSP00000489407.2:p.Glu909Val
ENST00000262795.6:c.3674A>T	ENSP00000489147.2:p.Glu1225Val
ENST00000664402.1:c.2216A>T	ENSP00000499475.1:p.Glu739Val
ENST00000673971.1:c.*2672A>T	ENSP00000501192.1:n.*2672A>T
ENST00000262795.5:c.4070A>T	ENSP00000489147.1:p.Glu1357Val
ENST00000414786.6:n.4258A>T
ENST00000445220.5:c.4052A>T	ENSP00000489407.1:p.Glu1351Val