Canonical Allele Identifier: CA515264859

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160665G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722237G>C , CM000684.2:g.50722237G>C	GRCh38
NC_000022.10:g.51160665G>C , CM000684.1:g.51160665G>C	GRCh37
NC_000022.9:g.49507531G>C	NCBI36
NG_008607.2:g.52883G>C
NG_070230.1:g.58021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4005G>C	ENSP00000489147.2:p.Gln1335His
ENST00000414786.7:n.4589G>C
ENST00000445220.7:c.3057G>C	ENSP00000489407.2:p.Gln1019His
ENST00000664402.2:c.2547G>C	ENSP00000499475.1:p.Gln849His
ENST00000673971.2:c.*3003G>C	ENSP00000501192.1:n.*3003G>C
ENST00000445220.6:c.3057G>C	ENSP00000489407.2:p.Gln1019His
ENST00000262795.6:c.4005G>C	ENSP00000489147.2:p.Gln1335His
ENST00000664402.1:c.2547G>C	ENSP00000499475.1:p.Gln849His
ENST00000673971.1:c.*3003G>C	ENSP00000501192.1:n.*3003G>C
ENST00000262795.5:c.4401G>C	ENSP00000489147.1:p.Gln1467His
ENST00000414786.6:n.4589G>C
ENST00000445220.5:c.4383G>C	ENSP00000489407.1:p.Gln1461His