Canonical Allele Identifier: CA515252231

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50694813C>T , CM000684.2:g.50694813C>T	GRCh38
NC_000022.10:g.51133241C>T , CM000684.1:g.51133241C>T	GRCh37
NC_000022.9:g.49480107C>T	NCBI36
NG_008607.2:g.25172C>T
NG_070230.1:g.30392C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372044.2:c.1294C>T MANE Select	NP_001358973.1:p.Arg432Ter
NM_001372044.1:c.1294C>T	NP_001358973.1:p.Arg432Ter
NM_033517.1:c.1069C>T	NP_277052.1:p.Arg357Ter
ENST00000262795.5:c.1069C>T	ENSP00000489147.1:p.Arg357Ter
ENST00000262795.6:c.712C>T	ENSP00000489147.2:p.Arg238Ter
ENST00000262795.7:c.712C>T	ENSP00000489147.2:p.Arg238Ter
ENST00000414786.6:n.1296C>T
ENST00000414786.7:n.1296C>T
ENST00000445220.5:c.1069C>T	ENSP00000489407.1:p.Arg357Ter
ENST00000673971.1:c.1069C>T	ENSP00000501192.1:p.Arg357Ter
ENST00000673971.2:c.1069C>T	ENSP00000501192.1:p.Arg357Ter
ENST00000692848.1:c.1069C>T	ENSP00000510794.1:p.Arg357Ter