Canonical Allele Identifier: CA515259272

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083274044
• gnomAD v4: 22-50720439-G-T
• MyVariant Identifiers: chr22:g.51158867G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720439G>T , CM000684.2:g.50720439G>T	GRCh38
NC_000022.10:g.51158867G>T , CM000684.1:g.51158867G>T	GRCh37
NC_000022.9:g.49505733G>T	NCBI36
NG_008607.2:g.51085G>T
NG_070230.1:g.56223G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2207G>T	ENSP00000489147.2:p.Gly736Val
ENST00000414786.7:n.2791G>T
ENST00000445220.7:c.1259G>T	ENSP00000489407.2:p.Gly420Val
ENST00000664402.2:c.749G>T	ENSP00000499475.1:p.Gly250Val
ENST00000673971.2:c.*1205G>T	ENSP00000501192.1:n.*1205G>T
ENST00000445220.6:c.1259G>T	ENSP00000489407.2:p.Gly420Val
ENST00000262795.6:c.2207G>T	ENSP00000489147.2:p.Gly736Val
ENST00000664402.1:c.749G>T	ENSP00000499475.1:p.Gly250Val
ENST00000673971.1:c.*1205G>T	ENSP00000501192.1:n.*1205G>T
ENST00000262795.5:c.2603G>T	ENSP00000489147.1:p.Gly868Val
ENST00000414786.6:n.2791G>T
ENST00000445220.5:c.2585G>T	ENSP00000489407.1:p.Gly862Val