Canonical Allele Identifier: CA515260894

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083281275
• MyVariant Identifiers: chr22:g.51159429C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721001C>T , CM000684.2:g.50721001C>T	GRCh38
NC_000022.10:g.51159429C>T , CM000684.1:g.51159429C>T	GRCh37
NC_000022.9:g.49506295C>T	NCBI36
NG_008607.2:g.51647C>T
NG_070230.1:g.56785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2769C>T	ENSP00000489147.2:p.Arg923=
ENST00000414786.7:n.3353C>T
ENST00000445220.7:c.1821C>T	ENSP00000489407.2:p.Arg607=
ENST00000664402.2:c.1311C>T	ENSP00000499475.1:p.Arg437=
ENST00000673971.2:c.*1767C>T	ENSP00000501192.1:n.*1767C>T
ENST00000445220.6:c.1821C>T	ENSP00000489407.2:p.Arg607=
ENST00000262795.6:c.2769C>T	ENSP00000489147.2:p.Arg923=
ENST00000664402.1:c.1311C>T	ENSP00000499475.1:p.Arg437=
ENST00000673971.1:c.*1767C>T	ENSP00000501192.1:n.*1767C>T
ENST00000262795.5:c.3165C>T	ENSP00000489147.1:p.Arg1055=
ENST00000414786.6:n.3353C>T
ENST00000445220.5:c.3147C>T	ENSP00000489407.1:p.Arg1049=