Canonical Allele Identifier: CA515261854

Gene: SHANK3

Linked Data

• dbSNP Id: rs1474253713
• MyVariant Identifiers: chr22:g.51159761C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721333C>T , CM000684.2:g.50721333C>T	GRCh38
NC_000022.10:g.51159761C>T , CM000684.1:g.51159761C>T	GRCh37
NC_000022.9:g.49506627C>T	NCBI36
NG_008607.2:g.51979C>T
NG_070230.1:g.57117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3101C>T	ENSP00000489147.2:p.Ala1034Val
ENST00000414786.7:n.3685C>T
ENST00000445220.7:c.2153C>T	ENSP00000489407.2:p.Ala718Val
ENST00000664402.2:c.1643C>T	ENSP00000499475.1:p.Ala548Val
ENST00000673971.2:c.*2099C>T	ENSP00000501192.1:n.*2099C>T
ENST00000445220.6:c.2153C>T	ENSP00000489407.2:p.Ala718Val
ENST00000262795.6:c.3101C>T	ENSP00000489147.2:p.Ala1034Val
ENST00000664402.1:c.1643C>T	ENSP00000499475.1:p.Ala548Val
ENST00000673971.1:c.*2099C>T	ENSP00000501192.1:n.*2099C>T
ENST00000262795.5:c.3497C>T	ENSP00000489147.1:p.Ala1166Val
ENST00000414786.6:n.3685C>T
ENST00000445220.5:c.3479C>T	ENSP00000489407.1:p.Ala1160Val