Canonical Allele Identifier: CA515259709

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720590-G-A
• MyVariant Identifiers: chr22:g.51159018G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720590G>A , CM000684.2:g.50720590G>A	GRCh38
NC_000022.10:g.51159018G>A , CM000684.1:g.51159018G>A	GRCh37
NC_000022.9:g.49505884G>A	NCBI36
NG_008607.2:g.51236G>A
NG_070230.1:g.56374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2358G>A	ENSP00000489147.2:p.Lys786=
ENST00000414786.7:n.2942G>A
ENST00000445220.7:c.1410G>A	ENSP00000489407.2:p.Lys470=
ENST00000664402.2:c.900G>A	ENSP00000499475.1:p.Lys300=
ENST00000673971.2:c.*1356G>A	ENSP00000501192.1:n.*1356G>A
ENST00000445220.6:c.1410G>A	ENSP00000489407.2:p.Lys470=
ENST00000262795.6:c.2358G>A	ENSP00000489147.2:p.Lys786=
ENST00000664402.1:c.900G>A	ENSP00000499475.1:p.Lys300=
ENST00000673971.1:c.*1356G>A	ENSP00000501192.1:n.*1356G>A
ENST00000262795.5:c.2754G>A	ENSP00000489147.1:p.Lys918=
ENST00000414786.6:n.2942G>A
ENST00000445220.5:c.2736G>A	ENSP00000489407.1:p.Lys912=