Canonical Allele Identifier: CA2410985259
Community Standard Title: NM_001372044.2(SHANK3):c.646C= (p.Pro216=)
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50678666C= , CM000684.2:g.50678666C= GRCh38
NC_000022.10:g.51117094C= , CM000684.1:g.51117094C= GRCh37
NC_000022.9:g.49463960C= NCBI36
NG_008607.2:g.9025C=
NG_070230.1:g.14431C=

Transcript Alleles

HGVS Amino-acid Change
NM_001372044.2:c.646C= MANE Select NP_001358973.1:p.Pro216=
NM_001372044.1:c.646C= NP_001358973.1:p.Pro216=
NM_033517.1:c.421C= NP_277052.1:p.Pro141=
ENST00000262795.5:c.421C= ENSP00000489147.1:p.Pro141=
ENST00000262795.6:c.64C= ENSP00000489147.2:p.Pro22=
ENST00000262795.7:c.64C= ENSP00000489147.2:p.Pro22=
ENST00000414786.6:n.648C=
ENST00000414786.7:n.648C=
ENST00000445220.5:c.421C= ENSP00000489407.1:p.Pro141=
ENST00000673971.1:c.421C= ENSP00000501192.1:p.Pro141=
ENST00000673971.2:c.421C= ENSP00000501192.1:p.Pro141=
ENST00000691768.1:n.384C=
ENST00000692848.1:c.421C= ENSP00000510794.1:p.Pro141=