Canonical Allele Identifier: CA515262581

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721479-A-C
• MyVariant Identifiers: chr22:g.51159907A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721479A>C , CM000684.2:g.50721479A>C	GRCh38
NC_000022.10:g.51159907A>C , CM000684.1:g.51159907A>C	GRCh37
NC_000022.9:g.49506773A>C	NCBI36
NG_008607.2:g.52125A>C
NG_070230.1:g.57263A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3247A>C	ENSP00000489147.2:p.Ser1083Arg
ENST00000414786.7:n.3831A>C
ENST00000445220.7:c.2299A>C	ENSP00000489407.2:p.Ser767Arg
ENST00000664402.2:c.1789A>C	ENSP00000499475.1:p.Ser597Arg
ENST00000673971.2:c.*2245A>C	ENSP00000501192.1:n.*2245A>C
ENST00000445220.6:c.2299A>C	ENSP00000489407.2:p.Ser767Arg
ENST00000262795.6:c.3247A>C	ENSP00000489147.2:p.Ser1083Arg
ENST00000664402.1:c.1789A>C	ENSP00000499475.1:p.Ser597Arg
ENST00000673971.1:c.*2245A>C	ENSP00000501192.1:n.*2245A>C
ENST00000262795.5:c.3643A>C	ENSP00000489147.1:p.Ser1215Arg
ENST00000414786.6:n.3831A>C
ENST00000445220.5:c.3625A>C	ENSP00000489407.1:p.Ser1209Arg