Canonical Allele Identifier: CA515264012

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160378A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721950A>T , CM000684.2:g.50721950A>T	GRCh38
NC_000022.10:g.51160378A>T , CM000684.1:g.51160378A>T	GRCh37
NC_000022.9:g.49507244A>T	NCBI36
NG_008607.2:g.52596A>T
NG_070230.1:g.57734A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3718A>T	ENSP00000489147.2:p.Thr1240Ser
ENST00000414786.7:n.4302A>T
ENST00000445220.7:c.2770A>T	ENSP00000489407.2:p.Thr924Ser
ENST00000664402.2:c.2260A>T	ENSP00000499475.1:p.Thr754Ser
ENST00000673971.2:c.*2716A>T	ENSP00000501192.1:n.*2716A>T
ENST00000445220.6:c.2770A>T	ENSP00000489407.2:p.Thr924Ser
ENST00000262795.6:c.3718A>T	ENSP00000489147.2:p.Thr1240Ser
ENST00000664402.1:c.2260A>T	ENSP00000499475.1:p.Thr754Ser
ENST00000673971.1:c.*2716A>T	ENSP00000501192.1:n.*2716A>T
ENST00000262795.5:c.4114A>T	ENSP00000489147.1:p.Thr1372Ser
ENST00000414786.6:n.4302A>T
ENST00000445220.5:c.4096A>T	ENSP00000489407.1:p.Thr1366Ser