Canonical Allele Identifier: CA10326276

Gene: SHANK3

Linked Data

• dbSNP Id: rs760650343
• ExAC: 22:51160648 C / T
• gnomAD v2: 22-51160648-C-T
• gnomAD v4: 22-50722220-C-T
• MyVariant Identifiers: chr22:g.51160648C>T (hg19) ; chr22:g.50722220C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3988C>T	ENSP00000489147.2:p.Pro1330Ser
ENST00000414786.7:n.4572C>T
ENST00000445220.7:c.3040C>T	ENSP00000489407.2:p.Pro1014Ser
ENST00000664402.2:c.2530C>T	ENSP00000499475.1:p.Pro844Ser
ENST00000673971.2:c.*2986C>T	ENSP00000501192.1:n.*2986C>T
ENST00000445220.6:c.3040C>T	ENSP00000489407.2:p.Pro1014Ser
ENST00000262795.6:c.3988C>T	ENSP00000489147.2:p.Pro1330Ser
ENST00000664402.1:c.2530C>T	ENSP00000499475.1:p.Pro844Ser
ENST00000673971.1:c.*2986C>T	ENSP00000501192.1:n.*2986C>T
ENST00000262795.5:c.4384C>T	ENSP00000489147.1:p.Pro1462Ser
ENST00000414786.6:n.4572C>T
ENST00000445220.5:c.4366C>T	ENSP00000489407.1:p.Pro1456Ser