Canonical Allele Identifier: CA10325937
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 252769
dbSNP Id: rs530255181

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50720741G>T , CM000684.2:g.50720741G>T GRCh38
NC_000022.10:g.51159169G>T , CM000684.1:g.51159169G>T GRCh37
NC_000022.9:g.49506035G>T NCBI36
NG_008607.2:g.51387G>T
NG_070230.1:g.56525G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.2509G>T ENSP00000489147.2:p.Ala837Ser
ENST00000414786.7:n.3093G>T
ENST00000445220.7:c.1561G>T ENSP00000489407.2:p.Ala521Ser
ENST00000664402.2:c.1051G>T ENSP00000499475.1:p.Ala351Ser
ENST00000673971.2:c.*1507G>T ENSP00000501192.1:n.*1507G>T
ENST00000445220.6:c.1561G>T ENSP00000489407.2:p.Ala521Ser
ENST00000262795.6:c.2509G>T ENSP00000489147.2:p.Ala837Ser
ENST00000664402.1:c.1051G>T ENSP00000499475.1:p.Ala351Ser
ENST00000673971.1:c.*1507G>T ENSP00000501192.1:n.*1507G>T
ENST00000262795.5:c.2905G>T ENSP00000489147.1:p.Ala969Ser
ENST00000414786.6:n.3093G>T
ENST00000445220.5:c.2887G>T ENSP00000489407.1:p.Ala963Ser