Canonical Allele Identifier: CA10326062
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175427
dbSNP Id: rs200188413

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721374C>A , CM000684.2:g.50721374C>A GRCh38
NC_000022.10:g.51159802C>A , CM000684.1:g.51159802C>A GRCh37
NC_000022.9:g.49506668C>A NCBI36
NG_008607.2:g.52020C>A
NG_070230.1:g.57158C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3142C>A ENSP00000489147.2:p.Pro1048Thr
ENST00000414786.7:n.3726C>A
ENST00000445220.7:c.2194C>A ENSP00000489407.2:p.Pro732Thr
ENST00000664402.2:c.1684C>A ENSP00000499475.1:p.Pro562Thr
ENST00000673971.2:c.*2140C>A ENSP00000501192.1:n.*2140C>A
ENST00000445220.6:c.2194C>A ENSP00000489407.2:p.Pro732Thr
ENST00000262795.6:c.3142C>A ENSP00000489147.2:p.Pro1048Thr
ENST00000664402.1:c.1684C>A ENSP00000499475.1:p.Pro562Thr
ENST00000673971.1:c.*2140C>A ENSP00000501192.1:n.*2140C>A
ENST00000262795.5:c.3538C>A ENSP00000489147.1:p.Pro1180Thr
ENST00000414786.6:n.3726C>A
ENST00000445220.5:c.3520C>A ENSP00000489407.1:p.Pro1174Thr