Canonical Allele Identifier: CA515263929

Gene: SHANK3

Linked Data

• dbSNP Id: rs1425188204
• gnomAD v2: 22-51160351-A-C
• gnomAD v4: 22-50721923-A-C
• MyVariant Identifiers: chr22:g.51160351A>C (hg19) ; chr22:g.50721923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721923A>C , CM000684.2:g.50721923A>C	GRCh38
NC_000022.10:g.51160351A>C , CM000684.1:g.51160351A>C	GRCh37
NC_000022.9:g.49507217A>C	NCBI36
NG_008607.2:g.52569A>C
NG_070230.1:g.57707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3691A>C	ENSP00000489147.2:p.Ser1231Arg
ENST00000414786.7:n.4275A>C
ENST00000445220.7:c.2743A>C	ENSP00000489407.2:p.Ser915Arg
ENST00000664402.2:c.2233A>C	ENSP00000499475.1:p.Ser745Arg
ENST00000673971.2:c.*2689A>C	ENSP00000501192.1:n.*2689A>C
ENST00000445220.6:c.2743A>C	ENSP00000489407.2:p.Ser915Arg
ENST00000262795.6:c.3691A>C	ENSP00000489147.2:p.Ser1231Arg
ENST00000664402.1:c.2233A>C	ENSP00000499475.1:p.Ser745Arg
ENST00000673971.1:c.*2689A>C	ENSP00000501192.1:n.*2689A>C
ENST00000262795.5:c.4087A>C	ENSP00000489147.1:p.Ser1363Arg
ENST00000414786.6:n.4275A>C
ENST00000445220.5:c.4069A>C	ENSP00000489407.1:p.Ser1357Arg