Canonical Allele Identifier: CA515263606
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160251C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721823C>G , CM000684.2:g.50721823C>G GRCh38
NC_000022.10:g.51160251C>G , CM000684.1:g.51160251C>G GRCh37
NC_000022.9:g.49507117C>G NCBI36
NG_008607.2:g.52469C>G
NG_070230.1:g.57607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3591C>G ENSP00000489147.2:p.Pro1197=
ENST00000414786.7:n.4175C>G
ENST00000445220.7:c.2643C>G ENSP00000489407.2:p.Pro881=
ENST00000664402.2:c.2133C>G ENSP00000499475.1:p.Pro711=
ENST00000673971.2:c.*2589C>G ENSP00000501192.1:n.*2589C>G
ENST00000445220.6:c.2643C>G ENSP00000489407.2:p.Pro881=
ENST00000262795.6:c.3591C>G ENSP00000489147.2:p.Pro1197=
ENST00000664402.1:c.2133C>G ENSP00000499475.1:p.Pro711=
ENST00000673971.1:c.*2589C>G ENSP00000501192.1:n.*2589C>G
ENST00000262795.5:c.3987C>G ENSP00000489147.1:p.Pro1329=
ENST00000414786.6:n.4175C>G
ENST00000445220.5:c.3969C>G ENSP00000489407.1:p.Pro1323=
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