Canonical Allele Identifier: CA515264019

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160381A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721953A>C , CM000684.2:g.50721953A>C	GRCh38
NC_000022.10:g.51160381A>C , CM000684.1:g.51160381A>C	GRCh37
NC_000022.9:g.49507247A>C	NCBI36
NG_008607.2:g.52599A>C
NG_070230.1:g.57737A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3721A>C	ENSP00000489147.2:p.Ser1241Arg
ENST00000414786.7:n.4305A>C
ENST00000445220.7:c.2773A>C	ENSP00000489407.2:p.Ser925Arg
ENST00000664402.2:c.2263A>C	ENSP00000499475.1:p.Ser755Arg
ENST00000673971.2:c.*2719A>C	ENSP00000501192.1:n.*2719A>C
ENST00000445220.6:c.2773A>C	ENSP00000489407.2:p.Ser925Arg
ENST00000262795.6:c.3721A>C	ENSP00000489147.2:p.Ser1241Arg
ENST00000664402.1:c.2263A>C	ENSP00000499475.1:p.Ser755Arg
ENST00000673971.1:c.*2719A>C	ENSP00000501192.1:n.*2719A>C
ENST00000262795.5:c.4117A>C	ENSP00000489147.1:p.Ser1373Arg
ENST00000414786.6:n.4305A>C
ENST00000445220.5:c.4099A>C	ENSP00000489407.1:p.Ser1367Arg