Canonical Allele Identifier: CA515263316

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160155G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721727G>C , CM000684.2:g.50721727G>C	GRCh38
NC_000022.10:g.51160155G>C , CM000684.1:g.51160155G>C	GRCh37
NC_000022.9:g.49507021G>C	NCBI36
NG_008607.2:g.52373G>C
NG_070230.1:g.57511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3495G>C	ENSP00000489147.2:p.Arg1165Ser
ENST00000414786.7:n.4079G>C
ENST00000445220.7:c.2547G>C	ENSP00000489407.2:p.Arg849Ser
ENST00000664402.2:c.2037G>C	ENSP00000499475.1:p.Arg679Ser
ENST00000673971.2:c.*2493G>C	ENSP00000501192.1:n.*2493G>C
ENST00000445220.6:c.2547G>C	ENSP00000489407.2:p.Arg849Ser
ENST00000262795.6:c.3495G>C	ENSP00000489147.2:p.Arg1165Ser
ENST00000664402.1:c.2037G>C	ENSP00000499475.1:p.Arg679Ser
ENST00000673971.1:c.*2493G>C	ENSP00000501192.1:n.*2493G>C
ENST00000262795.5:c.3891G>C	ENSP00000489147.1:p.Arg1297Ser
ENST00000414786.6:n.4079G>C
ENST00000445220.5:c.3873G>C	ENSP00000489407.1:p.Arg1291Ser