Canonical Allele Identifier: CA515255184

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697682-G-A
• MyVariant Identifiers: chr22:g.51136110G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697682G>A , CM000684.2:g.50697682G>A	GRCh38
NC_000022.10:g.51136110G>A , CM000684.1:g.51136110G>A	GRCh37
NC_000022.9:g.49482976G>A	NCBI36
NG_008607.2:g.28328G>A
NG_070230.1:g.33547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1066G>A	ENSP00000489147.2:p.Glu356Lys
ENST00000414786.7:n.1650G>A
ENST00000445220.7:c.118G>A	ENSP00000489407.2:p.Glu40Lys
ENST00000673971.2:c.1423G>A	ENSP00000501192.1:p.Glu475Lys
ENST00000445220.6:c.118G>A	ENSP00000489407.2:p.Glu40Lys
ENST00000262795.6:c.1066G>A	ENSP00000489147.2:p.Glu356Lys
ENST00000673971.1:c.1423G>A	ENSP00000501192.1:p.Glu475Lys
ENST00000673995.1:c.119G>A
ENST00000262795.5:c.1462G>A	ENSP00000489147.1:p.Glu488Lys
ENST00000414786.6:n.1650G>A
ENST00000445220.5:c.1444G>A	ENSP00000489407.1:p.Glu482Lys