Canonical Allele Identifier: CA515260002

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159115A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720687A>C , CM000684.2:g.50720687A>C	GRCh38
NC_000022.10:g.51159115A>C , CM000684.1:g.51159115A>C	GRCh37
NC_000022.9:g.49505981A>C	NCBI36
NG_008607.2:g.51333A>C
NG_070230.1:g.56471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2455A>C	ENSP00000489147.2:p.Ser819Arg
ENST00000414786.7:n.3039A>C
ENST00000445220.7:c.1507A>C	ENSP00000489407.2:p.Ser503Arg
ENST00000664402.2:c.997A>C	ENSP00000499475.1:p.Ser333Arg
ENST00000673971.2:c.*1453A>C	ENSP00000501192.1:n.*1453A>C
ENST00000445220.6:c.1507A>C	ENSP00000489407.2:p.Ser503Arg
ENST00000262795.6:c.2455A>C	ENSP00000489147.2:p.Ser819Arg
ENST00000664402.1:c.997A>C	ENSP00000499475.1:p.Ser333Arg
ENST00000673971.1:c.*1453A>C	ENSP00000501192.1:n.*1453A>C
ENST00000262795.5:c.2851A>C	ENSP00000489147.1:p.Ser951Arg
ENST00000414786.6:n.3039A>C
ENST00000445220.5:c.2833A>C	ENSP00000489407.1:p.Ser945Arg