Canonical Allele Identifier: CA515263705
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160283C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721855C>T , CM000684.2:g.50721855C>T GRCh38
NC_000022.10:g.51160283C>T , CM000684.1:g.51160283C>T GRCh37
NC_000022.9:g.49507149C>T NCBI36
NG_008607.2:g.52501C>T
NG_070230.1:g.57639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3623C>T ENSP00000489147.2:p.Pro1208Leu
ENST00000414786.7:n.4207C>T
ENST00000445220.7:c.2675C>T ENSP00000489407.2:p.Pro892Leu
ENST00000664402.2:c.2165C>T ENSP00000499475.1:p.Pro722Leu
ENST00000673971.2:c.*2621C>T ENSP00000501192.1:n.*2621C>T
ENST00000445220.6:c.2675C>T ENSP00000489407.2:p.Pro892Leu
ENST00000262795.6:c.3623C>T ENSP00000489147.2:p.Pro1208Leu
ENST00000664402.1:c.2165C>T ENSP00000499475.1:p.Pro722Leu
ENST00000673971.1:c.*2621C>T ENSP00000501192.1:n.*2621C>T
ENST00000262795.5:c.4019C>T ENSP00000489147.1:p.Pro1340Leu
ENST00000414786.6:n.4207C>T
ENST00000445220.5:c.4001C>T ENSP00000489407.1:p.Pro1334Leu