Canonical Allele Identifier: CA2410995396

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697659C= , CM000684.2:g.50697659C=	GRCh38
NC_000022.10:g.51136087C= , CM000684.1:g.51136087C=	GRCh37
NC_000022.9:g.49482953C=	NCBI36
NG_008607.2:g.28305C=
NG_070230.1:g.33524C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1043C=	ENSP00000489147.2:p.Ala348=
ENST00000414786.7:n.1627C=
ENST00000445220.7:c.95C=	ENSP00000489407.2:p.Ala32=
ENST00000673971.2:c.1400C=	ENSP00000501192.1:p.Ala467=
ENST00000445220.6:c.95C=	ENSP00000489407.2:p.Ala32=
ENST00000262795.6:c.1043C=	ENSP00000489147.2:p.Ala348=
ENST00000673971.1:c.1400C=	ENSP00000501192.1:p.Ala467=
ENST00000673995.1:c.96C=
ENST00000262795.5:c.1439C=	ENSP00000489147.1:p.Ala480=
ENST00000414786.6:n.1627C=
ENST00000445220.5:c.1421C=	ENSP00000489407.1:p.Ala474=