Canonical Allele Identifier: CA10326285

Gene: SHANK3

Linked Data

• dbSNP Id: rs755510030
• ExAC: 22:51160700 G / T
• gnomAD v2: 22-51160700-G-T
• gnomAD v3: 22-50722272-G-T
• gnomAD v4: 22-50722272-G-T
• MyVariant Identifiers: chr22:g.51160700G>T (hg19) ; chr22:g.50722272G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722272G>T , CM000684.2:g.50722272G>T	GRCh38
NC_000022.10:g.51160700G>T , CM000684.1:g.51160700G>T	GRCh37
NC_000022.9:g.49507566G>T	NCBI36
NG_008607.2:g.52918G>T
NG_070230.1:g.58056G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4040G>T	ENSP00000489147.2:p.Ser1347Ile
ENST00000414786.7:n.4624G>T
ENST00000445220.7:c.3092G>T	ENSP00000489407.2:p.Ser1031Ile
ENST00000664402.2:c.2582G>T	ENSP00000499475.1:p.Ser861Ile
ENST00000673971.2:c.*3038G>T	ENSP00000501192.1:n.*3038G>T
ENST00000445220.6:c.3092G>T	ENSP00000489407.2:p.Ser1031Ile
ENST00000262795.6:c.4040G>T	ENSP00000489147.2:p.Ser1347Ile
ENST00000664402.1:c.2582G>T	ENSP00000499475.1:p.Ser861Ile
ENST00000673971.1:c.*3038G>T	ENSP00000501192.1:n.*3038G>T
ENST00000262795.5:c.4436G>T	ENSP00000489147.1:p.Ser1479Ile
ENST00000414786.6:n.4624G>T
ENST00000445220.5:c.4418G>T	ENSP00000489407.1:p.Ser1473Ile