Canonical Allele Identifier: CA515264806

Gene: SHANK3

Linked Data

• dbSNP Id: rs760650343
• gnomAD v2: 22-51160648-C-A
• MyVariant Identifiers: chr22:g.51160648C>A (hg19) ; chr22:g.50722220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722220C>A , CM000684.2:g.50722220C>A	GRCh38
NC_000022.10:g.51160648C>A , CM000684.1:g.51160648C>A	GRCh37
NC_000022.9:g.49507514C>A	NCBI36
NG_008607.2:g.52866C>A
NG_070230.1:g.58004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3988C>A	ENSP00000489147.2:p.Pro1330Thr
ENST00000414786.7:n.4572C>A
ENST00000445220.7:c.3040C>A	ENSP00000489407.2:p.Pro1014Thr
ENST00000664402.2:c.2530C>A	ENSP00000499475.1:p.Pro844Thr
ENST00000673971.2:c.*2986C>A	ENSP00000501192.1:n.*2986C>A
ENST00000445220.6:c.3040C>A	ENSP00000489407.2:p.Pro1014Thr
ENST00000262795.6:c.3988C>A	ENSP00000489147.2:p.Pro1330Thr
ENST00000664402.1:c.2530C>A	ENSP00000499475.1:p.Pro844Thr
ENST00000673971.1:c.*2986C>A	ENSP00000501192.1:n.*2986C>A
ENST00000262795.5:c.4384C>A	ENSP00000489147.1:p.Pro1462Thr
ENST00000414786.6:n.4572C>A
ENST00000445220.5:c.4366C>A	ENSP00000489407.1:p.Pro1456Thr