Canonical Allele Identifier: CA515261743
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51159732T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721304T>G , CM000684.2:g.50721304T>G GRCh38
NC_000022.10:g.51159732T>G , CM000684.1:g.51159732T>G GRCh37
NC_000022.9:g.49506598T>G NCBI36
NG_008607.2:g.51950T>G
NG_070230.1:g.57088T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3072T>G ENSP00000489147.2:p.Ala1024=
ENST00000414786.7:n.3656T>G
ENST00000445220.7:c.2124T>G ENSP00000489407.2:p.Ala708=
ENST00000664402.2:c.1614T>G ENSP00000499475.1:p.Ala538=
ENST00000673971.2:c.*2070T>G ENSP00000501192.1:n.*2070T>G
ENST00000445220.6:c.2124T>G ENSP00000489407.2:p.Ala708=
ENST00000262795.6:c.3072T>G ENSP00000489147.2:p.Ala1024=
ENST00000664402.1:c.1614T>G ENSP00000499475.1:p.Ala538=
ENST00000673971.1:c.*2070T>G ENSP00000501192.1:n.*2070T>G
ENST00000262795.5:c.3468T>G ENSP00000489147.1:p.Ala1156=
ENST00000414786.6:n.3656T>G
ENST00000445220.5:c.3450T>G ENSP00000489407.1:p.Ala1150=
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