Canonical Allele Identifier: CA515259810

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720625-A-G
• MyVariant Identifiers: chr22:g.51159053A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720625A>G , CM000684.2:g.50720625A>G	GRCh38
NC_000022.10:g.51159053A>G , CM000684.1:g.51159053A>G	GRCh37
NC_000022.9:g.49505919A>G	NCBI36
NG_008607.2:g.51271A>G
NG_070230.1:g.56409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2393A>G	ENSP00000489147.2:p.Tyr798Cys
ENST00000414786.7:n.2977A>G
ENST00000445220.7:c.1445A>G	ENSP00000489407.2:p.Tyr482Cys
ENST00000664402.2:c.935A>G	ENSP00000499475.1:p.Tyr312Cys
ENST00000673971.2:c.*1391A>G	ENSP00000501192.1:n.*1391A>G
ENST00000445220.6:c.1445A>G	ENSP00000489407.2:p.Tyr482Cys
ENST00000262795.6:c.2393A>G	ENSP00000489147.2:p.Tyr798Cys
ENST00000664402.1:c.935A>G	ENSP00000499475.1:p.Tyr312Cys
ENST00000673971.1:c.*1391A>G	ENSP00000501192.1:n.*1391A>G
ENST00000262795.5:c.2789A>G	ENSP00000489147.1:p.Tyr930Cys
ENST00000414786.6:n.2977A>G
ENST00000445220.5:c.2771A>G	ENSP00000489407.1:p.Tyr924Cys