Canonical Allele Identifier: CA515264306

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722057-G-A
• MyVariant Identifiers: chr22:g.51160485G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722057G>A , CM000684.2:g.50722057G>A	GRCh38
NC_000022.10:g.51160485G>A , CM000684.1:g.51160485G>A	GRCh37
NC_000022.9:g.49507351G>A	NCBI36
NG_008607.2:g.52703G>A
NG_070230.1:g.57841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3825G>A	ENSP00000489147.2:p.Glu1275=
ENST00000414786.7:n.4409G>A
ENST00000445220.7:c.2877G>A	ENSP00000489407.2:p.Glu959=
ENST00000664402.2:c.2367G>A	ENSP00000499475.1:p.Glu789=
ENST00000673971.2:c.*2823G>A	ENSP00000501192.1:n.*2823G>A
ENST00000445220.6:c.2877G>A	ENSP00000489407.2:p.Glu959=
ENST00000262795.6:c.3825G>A	ENSP00000489147.2:p.Glu1275=
ENST00000664402.1:c.2367G>A	ENSP00000499475.1:p.Glu789=
ENST00000673971.1:c.*2823G>A	ENSP00000501192.1:n.*2823G>A
ENST00000262795.5:c.4221G>A	ENSP00000489147.1:p.Glu1407=
ENST00000414786.6:n.4409G>A
ENST00000445220.5:c.4203G>A	ENSP00000489407.1:p.Glu1401=