Canonical Allele Identifier: CA2410995399

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697665G= , CM000684.2:g.50697665G=	GRCh38
NC_000022.10:g.51136093G= , CM000684.1:g.51136093G=	GRCh37
NC_000022.9:g.49482959G=	NCBI36
NG_008607.2:g.28311G=
NG_070230.1:g.33530G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1049G=	ENSP00000489147.2:p.Ser350=
ENST00000414786.7:n.1633G=
ENST00000445220.7:c.101G=	ENSP00000489407.2:p.Ser34=
ENST00000673971.2:c.1406G=	ENSP00000501192.1:p.Ser469=
ENST00000445220.6:c.101G=	ENSP00000489407.2:p.Ser34=
ENST00000262795.6:c.1049G=	ENSP00000489147.2:p.Ser350=
ENST00000673971.1:c.1406G=	ENSP00000501192.1:p.Ser469=
ENST00000673995.1:c.102G=
ENST00000262795.5:c.1445G=	ENSP00000489147.1:p.Ser482=
ENST00000414786.6:n.1633G=
ENST00000445220.5:c.1427G=	ENSP00000489407.1:p.Ser476=