Canonical Allele Identifier: CA515259123

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720388-G-A
• MyVariant Identifiers: chr22:g.51158816G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720388G>A , CM000684.2:g.50720388G>A	GRCh38
NC_000022.10:g.51158816G>A , CM000684.1:g.51158816G>A	GRCh37
NC_000022.9:g.49505682G>A	NCBI36
NG_008607.2:g.51034G>A
NG_070230.1:g.56172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2156G>A	ENSP00000489147.2:p.Arg719His
ENST00000414786.7:n.2740G>A
ENST00000445220.7:c.1208G>A	ENSP00000489407.2:p.Arg403His
ENST00000664402.2:c.698G>A	ENSP00000499475.1:p.Arg233His
ENST00000673971.2:c.*1154G>A	ENSP00000501192.1:n.*1154G>A
ENST00000445220.6:c.1208G>A	ENSP00000489407.2:p.Arg403His
ENST00000262795.6:c.2156G>A	ENSP00000489147.2:p.Arg719His
ENST00000664402.1:c.698G>A	ENSP00000499475.1:p.Arg233His
ENST00000673971.1:c.*1154G>A	ENSP00000501192.1:n.*1154G>A
ENST00000262795.5:c.2552G>A	ENSP00000489147.1:p.Arg851His
ENST00000414786.6:n.2740G>A
ENST00000445220.5:c.2534G>A	ENSP00000489407.1:p.Arg845His