Canonical Allele Identifier: CA515263009

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160041T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721613T>C , CM000684.2:g.50721613T>C	GRCh38
NC_000022.10:g.51160041T>C , CM000684.1:g.51160041T>C	GRCh37
NC_000022.9:g.49506907T>C	NCBI36
NG_008607.2:g.52259T>C
NG_070230.1:g.57397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3381T>C	ENSP00000489147.2:p.Gly1127=
ENST00000414786.7:n.3965T>C
ENST00000445220.7:c.2433T>C	ENSP00000489407.2:p.Gly811=
ENST00000664402.2:c.1923T>C	ENSP00000499475.1:p.Gly641=
ENST00000673971.2:c.*2379T>C	ENSP00000501192.1:n.*2379T>C
ENST00000445220.6:c.2433T>C	ENSP00000489407.2:p.Gly811=
ENST00000262795.6:c.3381T>C	ENSP00000489147.2:p.Gly1127=
ENST00000664402.1:c.1923T>C	ENSP00000499475.1:p.Gly641=
ENST00000673971.1:c.*2379T>C	ENSP00000501192.1:n.*2379T>C
ENST00000262795.5:c.3777T>C	ENSP00000489147.1:p.Gly1259=
ENST00000414786.6:n.3965T>C
ENST00000445220.5:c.3759T>C	ENSP00000489407.1:p.Gly1253=