Canonical Allele Identifier: CA515259872

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720645-A-C
• MyVariant Identifiers: chr22:g.51159073A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720645A>C , CM000684.2:g.50720645A>C	GRCh38
NC_000022.10:g.51159073A>C , CM000684.1:g.51159073A>C	GRCh37
NC_000022.9:g.49505939A>C	NCBI36
NG_008607.2:g.51291A>C
NG_070230.1:g.56429A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2413A>C	ENSP00000489147.2:p.Ser805Arg
ENST00000414786.7:n.2997A>C
ENST00000445220.7:c.1465A>C	ENSP00000489407.2:p.Ser489Arg
ENST00000664402.2:c.955A>C	ENSP00000499475.1:p.Ser319Arg
ENST00000673971.2:c.*1411A>C	ENSP00000501192.1:n.*1411A>C
ENST00000445220.6:c.1465A>C	ENSP00000489407.2:p.Ser489Arg
ENST00000262795.6:c.2413A>C	ENSP00000489147.2:p.Ser805Arg
ENST00000664402.1:c.955A>C	ENSP00000499475.1:p.Ser319Arg
ENST00000673971.1:c.*1411A>C	ENSP00000501192.1:n.*1411A>C
ENST00000262795.5:c.2809A>C	ENSP00000489147.1:p.Ser937Arg
ENST00000414786.6:n.2997A>C
ENST00000445220.5:c.2791A>C	ENSP00000489407.1:p.Ser931Arg