Canonical Allele Identifier: CA515267291
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51169466C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50731038C>A , CM000684.2:g.50731038C>A GRCh38
NC_000022.10:g.51169466C>A , CM000684.1:g.51169466C>A GRCh37
NC_000022.9:g.49516332C>A NCBI36
NG_008607.2:g.61684C>A
NG_070230.1:g.66822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.4550C>A ENSP00000489147.2:p.Pro1517Gln
ENST00000414786.7:n.5134C>A
ENST00000445220.7:c.3602C>A ENSP00000489407.2:p.Pro1201Gln
ENST00000664402.2:c.3092C>A ENSP00000499475.1:p.Pro1031Gln
ENST00000673971.2:c.*3548C>A ENSP00000501192.1:n.*3548C>A
ENST00000445220.6:c.3602C>A ENSP00000489407.2:p.Pro1201Gln
ENST00000262795.6:c.4550C>A ENSP00000489147.2:p.Pro1517Gln
ENST00000659388.1:c.365C>A ENSP00000499632.1:p.Pro122Gln
ENST00000664402.1:c.3092C>A ENSP00000499475.1:p.Pro1031Gln
ENST00000673971.1:c.*3548C>A ENSP00000501192.1:n.*3548C>A
ENST00000262795.5:c.4919C>A ENSP00000489147.1:p.Pro1640Gln
ENST00000414786.6:n.5134C>A
ENST00000445220.5:c.4901C>A ENSP00000489407.1:p.Pro1634Gln