Canonical Allele Identifier: CA515261373
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs2083283578
MyVariant Identifiers: chr22:g.51159606A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721178A>C , CM000684.2:g.50721178A>C GRCh38
NC_000022.10:g.51159606A>C , CM000684.1:g.51159606A>C GRCh37
NC_000022.9:g.49506472A>C NCBI36
NG_008607.2:g.51824A>C
NG_070230.1:g.56962A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.2946A>C ENSP00000489147.2:p.Arg982=
ENST00000414786.7:n.3530A>C
ENST00000445220.7:c.1998A>C ENSP00000489407.2:p.Arg666=
ENST00000664402.2:c.1488A>C ENSP00000499475.1:p.Arg496=
ENST00000673971.2:c.*1944A>C ENSP00000501192.1:n.*1944A>C
ENST00000445220.6:c.1998A>C ENSP00000489407.2:p.Arg666=
ENST00000262795.6:c.2946A>C ENSP00000489147.2:p.Arg982=
ENST00000664402.1:c.1488A>C ENSP00000499475.1:p.Arg496=
ENST00000673971.1:c.*1944A>C ENSP00000501192.1:n.*1944A>C
ENST00000262795.5:c.3342A>C ENSP00000489147.1:p.Arg1114=
ENST00000414786.6:n.3530A>C
ENST00000445220.5:c.3324A>C ENSP00000489407.1:p.Arg1108=