Canonical Allele Identifier: CA2410995398

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697663C= , CM000684.2:g.50697663C=	GRCh38
NC_000022.10:g.51136091C= , CM000684.1:g.51136091C=	GRCh37
NC_000022.9:g.49482957C=	NCBI36
NG_008607.2:g.28309C=
NG_070230.1:g.33528C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1047C=	ENSP00000489147.2:p.His349=
ENST00000414786.7:n.1631C=
ENST00000445220.7:c.99C=	ENSP00000489407.2:p.His33=
ENST00000673971.2:c.1404C=	ENSP00000501192.1:p.His468=
ENST00000445220.6:c.99C=	ENSP00000489407.2:p.His33=
ENST00000262795.6:c.1047C=	ENSP00000489147.2:p.His349=
ENST00000673971.1:c.1404C=	ENSP00000501192.1:p.His468=
ENST00000673995.1:c.100C=
ENST00000262795.5:c.1443C=	ENSP00000489147.1:p.His481=
ENST00000414786.6:n.1631C=
ENST00000445220.5:c.1425C=	ENSP00000489407.1:p.His475=