Canonical Allele Identifier: CA515262788

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146831996
• MyVariant Identifiers: chr22:g.51159967G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721539G>C , CM000684.2:g.50721539G>C	GRCh38
NC_000022.10:g.51159967G>C , CM000684.1:g.51159967G>C	GRCh37
NC_000022.9:g.49506833G>C	NCBI36
NG_008607.2:g.52185G>C
NG_070230.1:g.57323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3307G>C	ENSP00000489147.2:p.Glu1103Gln
ENST00000414786.7:n.3891G>C
ENST00000445220.7:c.2359G>C	ENSP00000489407.2:p.Glu787Gln
ENST00000664402.2:c.1849G>C	ENSP00000499475.1:p.Glu617Gln
ENST00000673971.2:c.*2305G>C	ENSP00000501192.1:n.*2305G>C
ENST00000445220.6:c.2359G>C	ENSP00000489407.2:p.Glu787Gln
ENST00000262795.6:c.3307G>C	ENSP00000489147.2:p.Glu1103Gln
ENST00000664402.1:c.1849G>C	ENSP00000499475.1:p.Glu617Gln
ENST00000673971.1:c.*2305G>C	ENSP00000501192.1:n.*2305G>C
ENST00000262795.5:c.3703G>C	ENSP00000489147.1:p.Glu1235Gln
ENST00000414786.6:n.3891G>C
ENST00000445220.5:c.3685G>C	ENSP00000489407.1:p.Glu1229Gln