Canonical Allele Identifier: CA2410995369

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697598C= , CM000684.2:g.50697598C=	GRCh38
NC_000022.10:g.51136026C= , CM000684.1:g.51136026C=	GRCh37
NC_000022.9:g.49482892C=	NCBI36
NG_008607.2:g.28244C=
NG_070230.1:g.33463C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.982C=	ENSP00000489147.2:p.Arg328=
ENST00000414786.7:n.1566C=
ENST00000445220.7:c.34C=	ENSP00000489407.2:p.Arg12=
ENST00000673971.2:c.1339C=	ENSP00000501192.1:p.Arg447=
ENST00000445220.6:c.34C=	ENSP00000489407.2:p.Arg12=
ENST00000262795.6:c.982C=	ENSP00000489147.2:p.Arg328=
ENST00000673971.1:c.1339C=	ENSP00000501192.1:p.Arg447=
ENST00000673995.1:c.35C=
ENST00000262795.5:c.1378C=	ENSP00000489147.1:p.Arg460=
ENST00000414786.6:n.1566C=
ENST00000445220.5:c.1360C=	ENSP00000489407.1:p.Arg454=