Canonical Allele Identifier: CA515264557

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722141-G-A
• MyVariant Identifiers: chr22:g.51160569G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722141G>A , CM000684.2:g.50722141G>A	GRCh38
NC_000022.10:g.51160569G>A , CM000684.1:g.51160569G>A	GRCh37
NC_000022.9:g.49507435G>A	NCBI36
NG_008607.2:g.52787G>A
NG_070230.1:g.57925G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3909G>A	ENSP00000489147.2:p.Gln1303=
ENST00000414786.7:n.4493G>A
ENST00000445220.7:c.2961G>A	ENSP00000489407.2:p.Gln987=
ENST00000664402.2:c.2451G>A	ENSP00000499475.1:p.Gln817=
ENST00000673971.2:c.*2907G>A	ENSP00000501192.1:n.*2907G>A
ENST00000445220.6:c.2961G>A	ENSP00000489407.2:p.Gln987=
ENST00000262795.6:c.3909G>A	ENSP00000489147.2:p.Gln1303=
ENST00000664402.1:c.2451G>A	ENSP00000499475.1:p.Gln817=
ENST00000673971.1:c.*2907G>A	ENSP00000501192.1:n.*2907G>A
ENST00000262795.5:c.4305G>A	ENSP00000489147.1:p.Gln1435=
ENST00000414786.6:n.4493G>A
ENST00000445220.5:c.4287G>A	ENSP00000489407.1:p.Gln1429=