Canonical Allele Identifier: CA515263499

Gene: SHANK3

Linked Data

• dbSNP Id: rs745729063
• MyVariant Identifiers: chr22:g.51160219G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721791G>A , CM000684.2:g.50721791G>A	GRCh38
NC_000022.10:g.51160219G>A , CM000684.1:g.51160219G>A	GRCh37
NC_000022.9:g.49507085G>A	NCBI36
NG_008607.2:g.52437G>A
NG_070230.1:g.57575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3559G>A	ENSP00000489147.2:p.Ala1187Thr
ENST00000414786.7:n.4143G>A
ENST00000445220.7:c.2611G>A	ENSP00000489407.2:p.Ala871Thr
ENST00000664402.2:c.2101G>A	ENSP00000499475.1:p.Ala701Thr
ENST00000673971.2:c.*2557G>A	ENSP00000501192.1:n.*2557G>A
ENST00000445220.6:c.2611G>A	ENSP00000489407.2:p.Ala871Thr
ENST00000262795.6:c.3559G>A	ENSP00000489147.2:p.Ala1187Thr
ENST00000664402.1:c.2101G>A	ENSP00000499475.1:p.Ala701Thr
ENST00000673971.1:c.*2557G>A	ENSP00000501192.1:n.*2557G>A
ENST00000262795.5:c.3955G>A	ENSP00000489147.1:p.Ala1319Thr
ENST00000414786.6:n.4143G>A
ENST00000445220.5:c.3937G>A	ENSP00000489407.1:p.Ala1313Thr