Canonical Allele Identifier: CA515263911

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160345A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721917A>C , CM000684.2:g.50721917A>C	GRCh38
NC_000022.10:g.51160345A>C , CM000684.1:g.51160345A>C	GRCh37
NC_000022.9:g.49507211A>C	NCBI36
NG_008607.2:g.52563A>C
NG_070230.1:g.57701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3685A>C	ENSP00000489147.2:p.Thr1229Pro
ENST00000414786.7:n.4269A>C
ENST00000445220.7:c.2737A>C	ENSP00000489407.2:p.Thr913Pro
ENST00000664402.2:c.2227A>C	ENSP00000499475.1:p.Thr743Pro
ENST00000673971.2:c.*2683A>C	ENSP00000501192.1:n.*2683A>C
ENST00000445220.6:c.2737A>C	ENSP00000489407.2:p.Thr913Pro
ENST00000262795.6:c.3685A>C	ENSP00000489147.2:p.Thr1229Pro
ENST00000664402.1:c.2227A>C	ENSP00000499475.1:p.Thr743Pro
ENST00000673971.1:c.*2683A>C	ENSP00000501192.1:n.*2683A>C
ENST00000262795.5:c.4081A>C	ENSP00000489147.1:p.Thr1361Pro
ENST00000414786.6:n.4269A>C
ENST00000445220.5:c.4063A>C	ENSP00000489407.1:p.Thr1355Pro