Canonical Allele Identifier: CA515260100
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51159149C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50720721C>G , CM000684.2:g.50720721C>G GRCh38
NC_000022.10:g.51159149C>G , CM000684.1:g.51159149C>G GRCh37
NC_000022.9:g.49506015C>G NCBI36
NG_008607.2:g.51367C>G
NG_070230.1:g.56505C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.2489C>G ENSP00000489147.2:p.Ala830Gly
ENST00000414786.7:n.3073C>G
ENST00000445220.7:c.1541C>G ENSP00000489407.2:p.Ala514Gly
ENST00000664402.2:c.1031C>G ENSP00000499475.1:p.Ala344Gly
ENST00000673971.2:c.*1487C>G ENSP00000501192.1:n.*1487C>G
ENST00000445220.6:c.1541C>G ENSP00000489407.2:p.Ala514Gly
ENST00000262795.6:c.2489C>G ENSP00000489147.2:p.Ala830Gly
ENST00000664402.1:c.1031C>G ENSP00000499475.1:p.Ala344Gly
ENST00000673971.1:c.*1487C>G ENSP00000501192.1:n.*1487C>G
ENST00000262795.5:c.2885C>G ENSP00000489147.1:p.Ala962Gly
ENST00000414786.6:n.3073C>G
ENST00000445220.5:c.2867C>G ENSP00000489407.1:p.Ala956Gly