Canonical Allele Identifier: CA2577768356
Gene: SHANK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697760A>C , CM000684.2:g.50697760A>C GRCh38
NC_000022.10:g.51136188A>C , CM000684.1:g.51136188A>C GRCh37
NC_000022.9:g.49483054A>C NCBI36
NG_008607.2:g.28406A>C
NG_070230.1:g.33624A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1099+45A>C ENSP00000489147.2:n.1099+45A>C
ENST00000414786.7:n.1683+45A>C
ENST00000445220.7:c.151+45A>C ENSP00000489407.2:n.151+45A>C
ENST00000673971.2:c.1456+45A>C ENSP00000501192.1:n.1456+45A>C
ENST00000445220.6:c.151+45A>C ENSP00000489407.2:n.151+45A>C
ENST00000262795.6:c.1099+45A>C ENSP00000489147.2:n.1099+45A>C
ENST00000673971.1:c.1456+45A>C ENSP00000501192.1:n.1456+45A>C
ENST00000673995.1:c.152+45A>C
ENST00000262795.5:c.1495+45A>C ENSP00000489147.1:n.1495+45A>C
ENST00000414786.6:n.1683+45A>C
ENST00000445220.5:c.1477+45A>C ENSP00000489407.1:n.1477+45A>C