Canonical Allele Identifier: CA515263749

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146832809
• MyVariant Identifiers: chr22:g.51160296A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721868A>C , CM000684.2:g.50721868A>C	GRCh38
NC_000022.10:g.51160296A>C , CM000684.1:g.51160296A>C	GRCh37
NC_000022.9:g.49507162A>C	NCBI36
NG_008607.2:g.52514A>C
NG_070230.1:g.57652A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3636A>C	ENSP00000489147.2:p.Pro1212=
ENST00000414786.7:n.4220A>C
ENST00000445220.7:c.2688A>C	ENSP00000489407.2:p.Pro896=
ENST00000664402.2:c.2178A>C	ENSP00000499475.1:p.Pro726=
ENST00000673971.2:c.*2634A>C	ENSP00000501192.1:n.*2634A>C
ENST00000445220.6:c.2688A>C	ENSP00000489407.2:p.Pro896=
ENST00000262795.6:c.3636A>C	ENSP00000489147.2:p.Pro1212=
ENST00000664402.1:c.2178A>C	ENSP00000499475.1:p.Pro726=
ENST00000673971.1:c.*2634A>C	ENSP00000501192.1:n.*2634A>C
ENST00000262795.5:c.4032A>C	ENSP00000489147.1:p.Pro1344=
ENST00000414786.6:n.4220A>C
ENST00000445220.5:c.4014A>C	ENSP00000489407.1:p.Pro1338=