Canonical Allele Identifier: CA325579676
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs745729063

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721791G>T , CM000684.2:g.50721791G>T GRCh38
NC_000022.10:g.51160219G>T , CM000684.1:g.51160219G>T GRCh37
NC_000022.9:g.49507085G>T NCBI36
NG_008607.2:g.52437G>T
NG_070230.1:g.57575G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3559G>T ENSP00000489147.2:p.Ala1187Ser
ENST00000414786.7:n.4143G>T
ENST00000445220.7:c.2611G>T ENSP00000489407.2:p.Ala871Ser
ENST00000664402.2:c.2101G>T ENSP00000499475.1:p.Ala701Ser
ENST00000673971.2:c.*2557G>T ENSP00000501192.1:n.*2557G>T
ENST00000445220.6:c.2611G>T ENSP00000489407.2:p.Ala871Ser
ENST00000262795.6:c.3559G>T ENSP00000489147.2:p.Ala1187Ser
ENST00000664402.1:c.2101G>T ENSP00000499475.1:p.Ala701Ser
ENST00000673971.1:c.*2557G>T ENSP00000501192.1:n.*2557G>T
ENST00000262795.5:c.3955G>T ENSP00000489147.1:p.Ala1319Ser
ENST00000414786.6:n.4143G>T
ENST00000445220.5:c.3937G>T ENSP00000489407.1:p.Ala1313Ser