Canonical Allele Identifier: CA10326075
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs757913169

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721409G>C , CM000684.2:g.50721409G>C GRCh38
NC_000022.10:g.51159837G>C , CM000684.1:g.51159837G>C GRCh37
NC_000022.9:g.49506703G>C NCBI36
NG_008607.2:g.52055G>C
NG_070230.1:g.57193G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3177G>C ENSP00000489147.2:p.Lys1059Asn
ENST00000414786.7:n.3761G>C
ENST00000445220.7:c.2229G>C ENSP00000489407.2:p.Lys743Asn
ENST00000664402.2:c.1719G>C ENSP00000499475.1:p.Lys573Asn
ENST00000673971.2:c.*2175G>C ENSP00000501192.1:n.*2175G>C
ENST00000445220.6:c.2229G>C ENSP00000489407.2:p.Lys743Asn
ENST00000262795.6:c.3177G>C ENSP00000489147.2:p.Lys1059Asn
ENST00000664402.1:c.1719G>C ENSP00000499475.1:p.Lys573Asn
ENST00000673971.1:c.*2175G>C ENSP00000501192.1:n.*2175G>C
ENST00000262795.5:c.3573G>C ENSP00000489147.1:p.Lys1191Asn
ENST00000414786.6:n.3761G>C
ENST00000445220.5:c.3555G>C ENSP00000489407.1:p.Lys1185Asn