Canonical Allele Identifier: CA2410995348
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697576T= , CM000684.2:g.50697576T= GRCh38
NC_000022.10:g.51136004T= , CM000684.1:g.51136004T= GRCh37
NC_000022.9:g.49482870T= NCBI36
NG_008607.2:g.28222T=
NG_070230.1:g.33441T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.960T= ENSP00000489147.2:p.Pro320=
ENST00000414786.7:n.1544T=
ENST00000445220.7:c.12T= ENSP00000489407.2:p.Pro4=
ENST00000673971.2:c.1317T= ENSP00000501192.1:p.Pro439=
ENST00000445220.6:c.12T= ENSP00000489407.2:p.Pro4=
ENST00000262795.6:c.960T= ENSP00000489147.2:p.Pro320=
ENST00000673971.1:c.1317T= ENSP00000501192.1:p.Pro439=
ENST00000673995.1:c.13T=
ENST00000262795.5:c.1356T= ENSP00000489147.1:p.Pro452=
ENST00000414786.6:n.1544T=
ENST00000445220.5:c.1338T= ENSP00000489407.1:p.Pro446=