Canonical Allele Identifier: CA515255125

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697662-A-G
• MyVariant Identifiers: chr22:g.51136090A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697662A>G , CM000684.2:g.50697662A>G	GRCh38
NC_000022.10:g.51136090A>G , CM000684.1:g.51136090A>G	GRCh37
NC_000022.9:g.49482956A>G	NCBI36
NG_008607.2:g.28308A>G
NG_070230.1:g.33527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1046A>G	ENSP00000489147.2:p.His349Arg
ENST00000414786.7:n.1630A>G
ENST00000445220.7:c.98A>G	ENSP00000489407.2:p.His33Arg
ENST00000673971.2:c.1403A>G	ENSP00000501192.1:p.His468Arg
ENST00000445220.6:c.98A>G	ENSP00000489407.2:p.His33Arg
ENST00000262795.6:c.1046A>G	ENSP00000489147.2:p.His349Arg
ENST00000673971.1:c.1403A>G	ENSP00000501192.1:p.His468Arg
ENST00000673995.1:c.99A>G
ENST00000262795.5:c.1442A>G	ENSP00000489147.1:p.His481Arg
ENST00000414786.6:n.1630A>G
ENST00000445220.5:c.1424A>G	ENSP00000489407.1:p.His475Arg