Canonical Allele Identifier: CA515263588
Gene: SHANK3 HGNC NCBI

Linked Data

gnomAD v4: 22-50721817-C-G
MyVariant Identifiers: chr22:g.51160245C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721817C>G , CM000684.2:g.50721817C>G GRCh38
NC_000022.10:g.51160245C>G , CM000684.1:g.51160245C>G GRCh37
NC_000022.9:g.49507111C>G NCBI36
NG_008607.2:g.52463C>G
NG_070230.1:g.57601C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3585C>G ENSP00000489147.2:p.Pro1195=
ENST00000414786.7:n.4169C>G
ENST00000445220.7:c.2637C>G ENSP00000489407.2:p.Pro879=
ENST00000664402.2:c.2127C>G ENSP00000499475.1:p.Pro709=
ENST00000673971.2:c.*2583C>G ENSP00000501192.1:n.*2583C>G
ENST00000445220.6:c.2637C>G ENSP00000489407.2:p.Pro879=
ENST00000262795.6:c.3585C>G ENSP00000489147.2:p.Pro1195=
ENST00000664402.1:c.2127C>G ENSP00000499475.1:p.Pro709=
ENST00000673971.1:c.*2583C>G ENSP00000501192.1:n.*2583C>G
ENST00000262795.5:c.3981C>G ENSP00000489147.1:p.Pro1327=
ENST00000414786.6:n.4169C>G
ENST00000445220.5:c.3963C>G ENSP00000489407.1:p.Pro1321=
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