Canonical Allele Identifier: CA10326195

Gene: SHANK3

Linked Data

• dbSNP Id: rs547317253
• ExAC: 22:51160275 A / C
• gnomAD v2: 22-51160275-A-C
• gnomAD v3: 22-50721847-A-C
• gnomAD v4: 22-50721847-A-C
• COSMIC: COSM1035565 ; COSM1035566
• MyVariant Identifiers: chr22:g.51160275A>C (hg19) ; chr22:g.50721847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721847A>C , CM000684.2:g.50721847A>C	GRCh38
NC_000022.10:g.51160275A>C , CM000684.1:g.51160275A>C	GRCh37
NC_000022.9:g.49507141A>C	NCBI36
NG_008607.2:g.52493A>C
NG_070230.1:g.57631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3615A>C	ENSP00000489147.2:p.Ser1205=
ENST00000414786.7:n.4199A>C
ENST00000445220.7:c.2667A>C	ENSP00000489407.2:p.Ser889=
ENST00000664402.2:c.2157A>C	ENSP00000499475.1:p.Ser719=
ENST00000673971.2:c.*2613A>C	ENSP00000501192.1:n.*2613A>C
ENST00000445220.6:c.2667A>C	ENSP00000489407.2:p.Ser889=
ENST00000262795.6:c.3615A>C	ENSP00000489147.2:p.Ser1205=
ENST00000664402.1:c.2157A>C	ENSP00000499475.1:p.Ser719=
ENST00000673971.1:c.*2613A>C	ENSP00000501192.1:n.*2613A>C
ENST00000262795.5:c.4011A>C	ENSP00000489147.1:p.Ser1337=
ENST00000414786.6:n.4199A>C
ENST00000445220.5:c.3993A>C	ENSP00000489407.1:p.Ser1331=