Canonical Allele Identifier: CA515262250
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1170262479

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721393C>T , CM000684.2:g.50721393C>T GRCh38
NC_000022.10:g.51159821C>T , CM000684.1:g.51159821C>T GRCh37
NC_000022.9:g.49506687C>T NCBI36
NG_008607.2:g.52039C>T
NG_070230.1:g.57177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3161C>T ENSP00000489147.2:p.Ser1054Leu
ENST00000414786.7:n.3745C>T
ENST00000445220.7:c.2213C>T ENSP00000489407.2:p.Ser738Leu
ENST00000664402.2:c.1703C>T ENSP00000499475.1:p.Ser568Leu
ENST00000673971.2:c.*2159C>T ENSP00000501192.1:n.*2159C>T
ENST00000445220.6:c.2213C>T ENSP00000489407.2:p.Ser738Leu
ENST00000262795.6:c.3161C>T ENSP00000489147.2:p.Ser1054Leu
ENST00000664402.1:c.1703C>T ENSP00000499475.1:p.Ser568Leu
ENST00000673971.1:c.*2159C>T ENSP00000501192.1:n.*2159C>T
ENST00000262795.5:c.3557C>T ENSP00000489147.1:p.Ser1186Leu
ENST00000414786.6:n.3745C>T
ENST00000445220.5:c.3539C>T ENSP00000489407.1:p.Ser1180Leu