Canonical Allele Identifier: CA515264651

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146833382
• MyVariant Identifiers: chr22:g.51160599G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722171G>T , CM000684.2:g.50722171G>T	GRCh38
NC_000022.10:g.51160599G>T , CM000684.1:g.51160599G>T	GRCh37
NC_000022.9:g.49507465G>T	NCBI36
NG_008607.2:g.52817G>T
NG_070230.1:g.57955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3939G>T	ENSP00000489147.2:p.Gln1313His
ENST00000414786.7:n.4523G>T
ENST00000445220.7:c.2991G>T	ENSP00000489407.2:p.Gln997His
ENST00000664402.2:c.2481G>T	ENSP00000499475.1:p.Gln827His
ENST00000673971.2:c.*2937G>T	ENSP00000501192.1:n.*2937G>T
ENST00000445220.6:c.2991G>T	ENSP00000489407.2:p.Gln997His
ENST00000262795.6:c.3939G>T	ENSP00000489147.2:p.Gln1313His
ENST00000664402.1:c.2481G>T	ENSP00000499475.1:p.Gln827His
ENST00000673971.1:c.*2937G>T	ENSP00000501192.1:n.*2937G>T
ENST00000262795.5:c.4335G>T	ENSP00000489147.1:p.Gln1445His
ENST00000414786.6:n.4523G>T
ENST00000445220.5:c.4317G>T	ENSP00000489407.1:p.Gln1439His