Canonical Allele Identifier: CA16621142
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 422407
ClinVar RCV Id: RCV000479854 RCV001266197
dbSNP Id: rs1064795759
MyVariant Identifiers: chr22:g.51160663C>T (hg19) chr22:g.50722235C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50722235C>T , CM000684.2:g.50722235C>T GRCh38
NC_000022.10:g.51160663C>T , CM000684.1:g.51160663C>T GRCh37
NC_000022.9:g.49507529C>T NCBI36
NG_008607.2:g.52881C>T
NG_070230.1:g.58019C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.4003C>T ENSP00000489147.2:p.Gln1335Ter
ENST00000414786.7:n.4587C>T
ENST00000445220.7:c.3055C>T ENSP00000489407.2:p.Gln1019Ter
ENST00000664402.2:c.2545C>T ENSP00000499475.1:p.Gln849Ter
ENST00000673971.2:c.*3001C>T ENSP00000501192.1:n.*3001C>T
ENST00000445220.6:c.3055C>T ENSP00000489407.2:p.Gln1019Ter
ENST00000262795.6:c.4003C>T ENSP00000489147.2:p.Gln1335Ter
ENST00000664402.1:c.2545C>T ENSP00000499475.1:p.Gln849Ter
ENST00000673971.1:c.*3001C>T ENSP00000501192.1:n.*3001C>T
ENST00000262795.5:c.4399C>T ENSP00000489147.1:p.Gln1467Ter
ENST00000414786.6:n.4587C>T
ENST00000445220.5:c.4381C>T ENSP00000489407.1:p.Gln1461Ter
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