Canonical Allele Identifier: CA515263544
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs570447203

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721803G>C , CM000684.2:g.50721803G>C GRCh38
NC_000022.10:g.51160231G>C , CM000684.1:g.51160231G>C GRCh37
NC_000022.9:g.49507097G>C NCBI36
NG_008607.2:g.52449G>C
NG_070230.1:g.57587G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3571G>C ENSP00000489147.2:p.Ala1191Pro
ENST00000414786.7:n.4155G>C
ENST00000445220.7:c.2623G>C ENSP00000489407.2:p.Ala875Pro
ENST00000664402.2:c.2113G>C ENSP00000499475.1:p.Ala705Pro
ENST00000673971.2:c.*2569G>C ENSP00000501192.1:n.*2569G>C
ENST00000445220.6:c.2623G>C ENSP00000489407.2:p.Ala875Pro
ENST00000262795.6:c.3571G>C ENSP00000489147.2:p.Ala1191Pro
ENST00000664402.1:c.2113G>C ENSP00000499475.1:p.Ala705Pro
ENST00000673971.1:c.*2569G>C ENSP00000501192.1:n.*2569G>C
ENST00000262795.5:c.3967G>C ENSP00000489147.1:p.Ala1323Pro
ENST00000414786.6:n.4155G>C
ENST00000445220.5:c.3949G>C ENSP00000489407.1:p.Ala1317Pro