Canonical Allele Identifier: CA10326278

Gene: SHANK3

Linked Data

• dbSNP Id: rs776382958
• ExAC: 22:51160677 G / A
• gnomAD v2: 22-51160677-G-A
• gnomAD v3: 22-50722249-G-A
• gnomAD v4: 22-50722249-G-A
• MyVariant Identifiers: chr22:g.51160677G>A (hg19) ; chr22:g.50722249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722249G>A , CM000684.2:g.50722249G>A	GRCh38
NC_000022.10:g.51160677G>A , CM000684.1:g.51160677G>A	GRCh37
NC_000022.9:g.49507543G>A	NCBI36
NG_008607.2:g.52895G>A
NG_070230.1:g.58033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4017G>A	ENSP00000489147.2:p.Lys1339=
ENST00000414786.7:n.4601G>A
ENST00000445220.7:c.3069G>A	ENSP00000489407.2:p.Lys1023=
ENST00000664402.2:c.2559G>A	ENSP00000499475.1:p.Lys853=
ENST00000673971.2:c.*3015G>A	ENSP00000501192.1:n.*3015G>A
ENST00000445220.6:c.3069G>A	ENSP00000489407.2:p.Lys1023=
ENST00000262795.6:c.4017G>A	ENSP00000489147.2:p.Lys1339=
ENST00000664402.1:c.2559G>A	ENSP00000499475.1:p.Lys853=
ENST00000673971.1:c.*3015G>A	ENSP00000501192.1:n.*3015G>A
ENST00000262795.5:c.4413G>A	ENSP00000489147.1:p.Lys1471=
ENST00000414786.6:n.4601G>A
ENST00000445220.5:c.4395G>A	ENSP00000489407.1:p.Lys1465=