Canonical Allele Identifier: CA10326017
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs747874740

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721231G>C , CM000684.2:g.50721231G>C GRCh38
NC_000022.10:g.51159659G>C , CM000684.1:g.51159659G>C GRCh37
NC_000022.9:g.49506525G>C NCBI36
NG_008607.2:g.51877G>C
NG_070230.1:g.57015G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.2999G>C ENSP00000489147.2:p.Ser1000Thr
ENST00000414786.7:n.3583G>C
ENST00000445220.7:c.2051G>C ENSP00000489407.2:p.Ser684Thr
ENST00000664402.2:c.1541G>C ENSP00000499475.1:p.Ser514Thr
ENST00000673971.2:c.*1997G>C ENSP00000501192.1:n.*1997G>C
ENST00000445220.6:c.2051G>C ENSP00000489407.2:p.Ser684Thr
ENST00000262795.6:c.2999G>C ENSP00000489147.2:p.Ser1000Thr
ENST00000664402.1:c.1541G>C ENSP00000499475.1:p.Ser514Thr
ENST00000673971.1:c.*1997G>C ENSP00000501192.1:n.*1997G>C
ENST00000262795.5:c.3395G>C ENSP00000489147.1:p.Ser1132Thr
ENST00000414786.6:n.3583G>C
ENST00000445220.5:c.3377G>C ENSP00000489407.1:p.Ser1126Thr