Canonical Allele Identifier: CA515261749
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51159734C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721306C>A , CM000684.2:g.50721306C>A GRCh38
NC_000022.10:g.51159734C>A , CM000684.1:g.51159734C>A GRCh37
NC_000022.9:g.49506600C>A NCBI36
NG_008607.2:g.51952C>A
NG_070230.1:g.57090C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3074C>A ENSP00000489147.2:p.Ser1025Tyr
ENST00000414786.7:n.3658C>A
ENST00000445220.7:c.2126C>A ENSP00000489407.2:p.Ser709Tyr
ENST00000664402.2:c.1616C>A ENSP00000499475.1:p.Ser539Tyr
ENST00000673971.2:c.*2072C>A ENSP00000501192.1:n.*2072C>A
ENST00000445220.6:c.2126C>A ENSP00000489407.2:p.Ser709Tyr
ENST00000262795.6:c.3074C>A ENSP00000489147.2:p.Ser1025Tyr
ENST00000664402.1:c.1616C>A ENSP00000499475.1:p.Ser539Tyr
ENST00000673971.1:c.*2072C>A ENSP00000501192.1:n.*2072C>A
ENST00000262795.5:c.3470C>A ENSP00000489147.1:p.Ser1157Tyr
ENST00000414786.6:n.3658C>A
ENST00000445220.5:c.3452C>A ENSP00000489407.1:p.Ser1151Tyr
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