Canonical Allele Identifier: CA515264680

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722180-C-A
• MyVariant Identifiers: chr22:g.51160608C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722180C>A , CM000684.2:g.50722180C>A	GRCh38
NC_000022.10:g.51160608C>A , CM000684.1:g.51160608C>A	GRCh37
NC_000022.9:g.49507474C>A	NCBI36
NG_008607.2:g.52826C>A
NG_070230.1:g.57964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3948C>A	ENSP00000489147.2:p.Ala1316=
ENST00000414786.7:n.4532C>A
ENST00000445220.7:c.3000C>A	ENSP00000489407.2:p.Ala1000=
ENST00000664402.2:c.2490C>A	ENSP00000499475.1:p.Ala830=
ENST00000673971.2:c.*2946C>A	ENSP00000501192.1:n.*2946C>A
ENST00000445220.6:c.3000C>A	ENSP00000489407.2:p.Ala1000=
ENST00000262795.6:c.3948C>A	ENSP00000489147.2:p.Ala1316=
ENST00000664402.1:c.2490C>A	ENSP00000499475.1:p.Ala830=
ENST00000673971.1:c.*2946C>A	ENSP00000501192.1:n.*2946C>A
ENST00000262795.5:c.4344C>A	ENSP00000489147.1:p.Ala1448=
ENST00000414786.6:n.4532C>A
ENST00000445220.5:c.4326C>A	ENSP00000489407.1:p.Ala1442=