Canonical Allele Identifier: CA325578397

Gene: SHANK3

Linked Data

• dbSNP Id: rs1041127631
• gnomAD v4: 22-50720895-A-G
• MyVariant Identifiers: chr22:g.51159323A>G (hg19) ; chr22:g.50720895A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720895A>G , CM000684.2:g.50720895A>G	GRCh38
NC_000022.10:g.51159323A>G , CM000684.1:g.51159323A>G	GRCh37
NC_000022.9:g.49506189A>G	NCBI36
NG_008607.2:g.51541A>G
NG_070230.1:g.56679A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2663A>G	ENSP00000489147.2:p.Glu888Gly
ENST00000414786.7:n.3247A>G
ENST00000445220.7:c.1715A>G	ENSP00000489407.2:p.Glu572Gly
ENST00000664402.2:c.1205A>G	ENSP00000499475.1:p.Glu402Gly
ENST00000673971.2:c.*1661A>G	ENSP00000501192.1:n.*1661A>G
ENST00000445220.6:c.1715A>G	ENSP00000489407.2:p.Glu572Gly
ENST00000262795.6:c.2663A>G	ENSP00000489147.2:p.Glu888Gly
ENST00000664402.1:c.1205A>G	ENSP00000499475.1:p.Glu402Gly
ENST00000673971.1:c.*1661A>G	ENSP00000501192.1:n.*1661A>G
ENST00000262795.5:c.3059A>G	ENSP00000489147.1:p.Glu1020Gly
ENST00000414786.6:n.3247A>G
ENST00000445220.5:c.3041A>G	ENSP00000489407.1:p.Glu1014Gly