Canonical Allele Identifier: CA10326251

Gene: SHANK3

Linked Data

• dbSNP Id: rs777005622
• ExAC: 22:51160584 G / A
• gnomAD v2: 22-51160584-G-A
• gnomAD v3: 22-50722156-G-A
• gnomAD v4: 22-50722156-G-A
• MyVariant Identifiers: chr22:g.51160584G>A (hg19) ; chr22:g.50722156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722156G>A , CM000684.2:g.50722156G>A	GRCh38
NC_000022.10:g.51160584G>A , CM000684.1:g.51160584G>A	GRCh37
NC_000022.9:g.49507450G>A	NCBI36
NG_008607.2:g.52802G>A
NG_070230.1:g.57940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3924G>A	ENSP00000489147.2:p.Glu1308=
ENST00000414786.7:n.4508G>A
ENST00000445220.7:c.2976G>A	ENSP00000489407.2:p.Glu992=
ENST00000664402.2:c.2466G>A	ENSP00000499475.1:p.Glu822=
ENST00000673971.2:c.*2922G>A	ENSP00000501192.1:n.*2922G>A
ENST00000445220.6:c.2976G>A	ENSP00000489407.2:p.Glu992=
ENST00000262795.6:c.3924G>A	ENSP00000489147.2:p.Glu1308=
ENST00000664402.1:c.2466G>A	ENSP00000499475.1:p.Glu822=
ENST00000673971.1:c.*2922G>A	ENSP00000501192.1:n.*2922G>A
ENST00000262795.5:c.4320G>A	ENSP00000489147.1:p.Glu1440=
ENST00000414786.6:n.4508G>A
ENST00000445220.5:c.4302G>A	ENSP00000489407.1:p.Glu1434=