Canonical Allele Identifier: CA515261799
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs2083285718
gnomAD v4: 22-50721318-C-G
MyVariant Identifiers: chr22:g.51159746C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721318C>G , CM000684.2:g.50721318C>G GRCh38
NC_000022.10:g.51159746C>G , CM000684.1:g.51159746C>G GRCh37
NC_000022.9:g.49506612C>G NCBI36
NG_008607.2:g.51964C>G
NG_070230.1:g.57102C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3086C>G ENSP00000489147.2:p.Ser1029Cys
ENST00000414786.7:n.3670C>G
ENST00000445220.7:c.2138C>G ENSP00000489407.2:p.Ser713Cys
ENST00000664402.2:c.1628C>G ENSP00000499475.1:p.Ser543Cys
ENST00000673971.2:c.*2084C>G ENSP00000501192.1:n.*2084C>G
ENST00000445220.6:c.2138C>G ENSP00000489407.2:p.Ser713Cys
ENST00000262795.6:c.3086C>G ENSP00000489147.2:p.Ser1029Cys
ENST00000664402.1:c.1628C>G ENSP00000499475.1:p.Ser543Cys
ENST00000673971.1:c.*2084C>G ENSP00000501192.1:n.*2084C>G
ENST00000262795.5:c.3482C>G ENSP00000489147.1:p.Ser1161Cys
ENST00000414786.6:n.3670C>G
ENST00000445220.5:c.3464C>G ENSP00000489407.1:p.Ser1155Cys
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