Canonical Allele Identifier: CA515254749
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51135974T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697546T>A , CM000684.2:g.50697546T>A GRCh38
NC_000022.10:g.51135974T>A , CM000684.1:g.51135974T>A GRCh37
NC_000022.9:g.49482840T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-18T>A ENSP00000489147.2:n.948-18T>A
ENST00000414786.7:n.1532-18T>A
ENST00000673971.2:c.1305-18T>A ENSP00000501192.1:n.1305-18T>A
ENST00000262795.6:c.948-18T>A ENSP00000489147.2:n.948-18T>A
ENST00000673971.1:c.1305-18T>A ENSP00000501192.1:n.1305-18T>A
ENST00000262795.5:c.1345-19T>A ENSP00000489147.1:n.1345-19T>A
ENST00000414786.6:n.1532-18T>A
ENST00000445220.5:c.1326-18T>A ENSP00000489407.1:n.1326-18T>A