Canonical Allele Identifier: CA515264929

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160686G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722258G>T , CM000684.2:g.50722258G>T	GRCh38
NC_000022.10:g.51160686G>T , CM000684.1:g.51160686G>T	GRCh37
NC_000022.9:g.49507552G>T	NCBI36
NG_008607.2:g.52904G>T
NG_070230.1:g.58042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4026G>T	ENSP00000489147.2:p.Gly1342=
ENST00000414786.7:n.4610G>T
ENST00000445220.7:c.3078G>T	ENSP00000489407.2:p.Gly1026=
ENST00000664402.2:c.2568G>T	ENSP00000499475.1:p.Gly856=
ENST00000673971.2:c.*3024G>T	ENSP00000501192.1:n.*3024G>T
ENST00000445220.6:c.3078G>T	ENSP00000489407.2:p.Gly1026=
ENST00000262795.6:c.4026G>T	ENSP00000489147.2:p.Gly1342=
ENST00000664402.1:c.2568G>T	ENSP00000499475.1:p.Gly856=
ENST00000673971.1:c.*3024G>T	ENSP00000501192.1:n.*3024G>T
ENST00000262795.5:c.4422G>T	ENSP00000489147.1:p.Gly1474=
ENST00000414786.6:n.4610G>T
ENST00000445220.5:c.4404G>T	ENSP00000489407.1:p.Gly1468=