Canonical Allele Identifier: CA515259041

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720360-C-A
• MyVariant Identifiers: chr22:g.51158788C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720360C>A , CM000684.2:g.50720360C>A	GRCh38
NC_000022.10:g.51158788C>A , CM000684.1:g.51158788C>A	GRCh37
NC_000022.9:g.49505654C>A	NCBI36
NG_008607.2:g.51006C>A
NG_070230.1:g.56144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2128C>A	ENSP00000489147.2:p.Pro710Thr
ENST00000414786.7:n.2712C>A
ENST00000445220.7:c.1180C>A	ENSP00000489407.2:p.Pro394Thr
ENST00000664402.2:c.670C>A	ENSP00000499475.1:p.Pro224Thr
ENST00000673971.2:c.*1126C>A	ENSP00000501192.1:n.*1126C>A
ENST00000445220.6:c.1180C>A	ENSP00000489407.2:p.Pro394Thr
ENST00000262795.6:c.2128C>A	ENSP00000489147.2:p.Pro710Thr
ENST00000664402.1:c.670C>A	ENSP00000499475.1:p.Pro224Thr
ENST00000673971.1:c.*1126C>A	ENSP00000501192.1:n.*1126C>A
ENST00000262795.5:c.2524C>A	ENSP00000489147.1:p.Pro842Thr
ENST00000414786.6:n.2712C>A
ENST00000445220.5:c.2506C>A	ENSP00000489407.1:p.Pro836Thr