Canonical Allele Identifier: CA515254739
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51135972A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697544A>T , CM000684.2:g.50697544A>T GRCh38
NC_000022.10:g.51135972A>T , CM000684.1:g.51135972A>T GRCh37
NC_000022.9:g.49482838A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-20A>T ENSP00000489147.2:n.948-20A>T
ENST00000414786.7:n.1532-20A>T
ENST00000673971.2:c.1305-20A>T ENSP00000501192.1:n.1305-20A>T
ENST00000262795.6:c.948-20A>T ENSP00000489147.2:n.948-20A>T
ENST00000673971.1:c.1305-20A>T ENSP00000501192.1:n.1305-20A>T
ENST00000262795.5:c.1345-21A>T ENSP00000489147.1:n.1345-21A>T
ENST00000414786.6:n.1532-20A>T
ENST00000445220.5:c.1326-20A>T ENSP00000489407.1:n.1326-20A>T