Canonical Allele Identifier: CA515261815
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51159751C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721323C>A , CM000684.2:g.50721323C>A GRCh38
NC_000022.10:g.51159751C>A , CM000684.1:g.51159751C>A GRCh37
NC_000022.9:g.49506617C>A NCBI36
NG_008607.2:g.51969C>A
NG_070230.1:g.57107C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3091C>A ENSP00000489147.2:p.Arg1031=
ENST00000414786.7:n.3675C>A
ENST00000445220.7:c.2143C>A ENSP00000489407.2:p.Arg715=
ENST00000664402.2:c.1633C>A ENSP00000499475.1:p.Arg545=
ENST00000673971.2:c.*2089C>A ENSP00000501192.1:n.*2089C>A
ENST00000445220.6:c.2143C>A ENSP00000489407.2:p.Arg715=
ENST00000262795.6:c.3091C>A ENSP00000489147.2:p.Arg1031=
ENST00000664402.1:c.1633C>A ENSP00000499475.1:p.Arg545=
ENST00000673971.1:c.*2089C>A ENSP00000501192.1:n.*2089C>A
ENST00000262795.5:c.3487C>A ENSP00000489147.1:p.Arg1163=
ENST00000414786.6:n.3675C>A
ENST00000445220.5:c.3469C>A ENSP00000489407.1:p.Arg1157=