Canonical Allele Identifier: CA515260701

Gene: SHANK3

Linked Data

• dbSNP Id: rs374728986
• gnomAD v2: 22-51159360-G-T
• gnomAD v4: 22-50720932-G-T
• MyVariant Identifiers: chr22:g.51159360G>T (hg19) ; chr22:g.50720932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720932G>T , CM000684.2:g.50720932G>T	GRCh38
NC_000022.10:g.51159360G>T , CM000684.1:g.51159360G>T	GRCh37
NC_000022.9:g.49506226G>T	NCBI36
NG_008607.2:g.51578G>T
NG_070230.1:g.56716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2700G>T	ENSP00000489147.2:p.Gly900=
ENST00000414786.7:n.3284G>T
ENST00000445220.7:c.1752G>T	ENSP00000489407.2:p.Gly584=
ENST00000664402.2:c.1242G>T	ENSP00000499475.1:p.Gly414=
ENST00000673971.2:c.*1698G>T	ENSP00000501192.1:n.*1698G>T
ENST00000445220.6:c.1752G>T	ENSP00000489407.2:p.Gly584=
ENST00000262795.6:c.2700G>T	ENSP00000489147.2:p.Gly900=
ENST00000664402.1:c.1242G>T	ENSP00000499475.1:p.Gly414=
ENST00000673971.1:c.*1698G>T	ENSP00000501192.1:n.*1698G>T
ENST00000262795.5:c.3096G>T	ENSP00000489147.1:p.Gly1032=
ENST00000414786.6:n.3284G>T
ENST00000445220.5:c.3078G>T	ENSP00000489407.1:p.Gly1026=