Canonical Allele Identifier: CA2410985469
Community Standard Title: NM_001372044.2(SHANK3):c.959T= (p.Ile320=)
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50679152T= , CM000684.2:g.50679152T= GRCh38
NC_000022.10:g.51117580T= , CM000684.1:g.51117580T= GRCh37
NC_000022.9:g.49464446T= NCBI36
NG_008607.2:g.9511T=
NG_070230.1:g.14917T=

Transcript Alleles

HGVS Amino-acid Change
NM_001372044.2:c.959T= MANE Select NP_001358973.1:p.Ile320=
NM_001372044.1:c.959T= NP_001358973.1:p.Ile320=
NM_033517.1:c.734T= NP_277052.1:p.Ile245=
ENST00000262795.5:c.734T= ENSP00000489147.1:p.Ile245=
ENST00000262795.6:c.377T= ENSP00000489147.2:p.Ile126=
ENST00000262795.7:c.377T= ENSP00000489147.2:p.Ile126=
ENST00000414786.6:n.961T=
ENST00000414786.7:n.961T=
ENST00000445220.5:c.734T= ENSP00000489407.1:p.Ile245=
ENST00000673971.1:c.734T= ENSP00000501192.1:p.Ile245=
ENST00000673971.2:c.734T= ENSP00000501192.1:p.Ile245=
ENST00000691768.1:n.697T=
ENST00000692848.1:c.734T= ENSP00000510794.1:p.Ile245=