Canonical Allele Identifier: CA515263602
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160250C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721822C>A , CM000684.2:g.50721822C>A GRCh38
NC_000022.10:g.51160250C>A , CM000684.1:g.51160250C>A GRCh37
NC_000022.9:g.49507116C>A NCBI36
NG_008607.2:g.52468C>A
NG_070230.1:g.57606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3590C>A ENSP00000489147.2:p.Pro1197His
ENST00000414786.7:n.4174C>A
ENST00000445220.7:c.2642C>A ENSP00000489407.2:p.Pro881His
ENST00000664402.2:c.2132C>A ENSP00000499475.1:p.Pro711His
ENST00000673971.2:c.*2588C>A ENSP00000501192.1:n.*2588C>A
ENST00000445220.6:c.2642C>A ENSP00000489407.2:p.Pro881His
ENST00000262795.6:c.3590C>A ENSP00000489147.2:p.Pro1197His
ENST00000664402.1:c.2132C>A ENSP00000499475.1:p.Pro711His
ENST00000673971.1:c.*2588C>A ENSP00000501192.1:n.*2588C>A
ENST00000262795.5:c.3986C>A ENSP00000489147.1:p.Pro1329His
ENST00000414786.6:n.4174C>A
ENST00000445220.5:c.3968C>A ENSP00000489407.1:p.Pro1323His
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