Canonical Allele Identifier: CA325577990

Gene: SHANK3

Linked Data

• dbSNP Id: rs868333250
• MyVariant Identifiers: chr22:g.51158681T>C (hg19) ; chr22:g.50720253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720253T>C , CM000684.2:g.50720253T>C	GRCh38
NC_000022.10:g.51158681T>C , CM000684.1:g.51158681T>C	GRCh37
NC_000022.9:g.49505547T>C	NCBI36
NG_008607.2:g.50899T>C
NG_070230.1:g.56037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2021T>C	ENSP00000489147.2:p.Val674Ala
ENST00000414786.7:n.2605T>C
ENST00000445220.7:c.1073T>C	ENSP00000489407.2:p.Val358Ala
ENST00000664402.2:c.563T>C	ENSP00000499475.1:p.Val188Ala
ENST00000673971.2:c.*1019T>C	ENSP00000501192.1:n.*1019T>C
ENST00000445220.6:c.1073T>C	ENSP00000489407.2:p.Val358Ala
ENST00000262795.6:c.2021T>C	ENSP00000489147.2:p.Val674Ala
ENST00000664402.1:c.563T>C	ENSP00000499475.1:p.Val188Ala
ENST00000673971.1:c.*1019T>C	ENSP00000501192.1:n.*1019T>C
ENST00000262795.5:c.2417T>C	ENSP00000489147.1:p.Val806Ala
ENST00000414786.6:n.2605T>C
ENST00000445220.5:c.2399T>C	ENSP00000489407.1:p.Val800Ala