Canonical Allele Identifier: CA515263753

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721870-C-A
• MyVariant Identifiers: chr22:g.51160298C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721870C>A , CM000684.2:g.50721870C>A	GRCh38
NC_000022.10:g.51160298C>A , CM000684.1:g.51160298C>A	GRCh37
NC_000022.9:g.49507164C>A	NCBI36
NG_008607.2:g.52516C>A
NG_070230.1:g.57654C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3638C>A	ENSP00000489147.2:p.Pro1213His
ENST00000414786.7:n.4222C>A
ENST00000445220.7:c.2690C>A	ENSP00000489407.2:p.Pro897His
ENST00000664402.2:c.2180C>A	ENSP00000499475.1:p.Pro727His
ENST00000673971.2:c.*2636C>A	ENSP00000501192.1:n.*2636C>A
ENST00000445220.6:c.2690C>A	ENSP00000489407.2:p.Pro897His
ENST00000262795.6:c.3638C>A	ENSP00000489147.2:p.Pro1213His
ENST00000664402.1:c.2180C>A	ENSP00000499475.1:p.Pro727His
ENST00000673971.1:c.*2636C>A	ENSP00000501192.1:n.*2636C>A
ENST00000262795.5:c.4034C>A	ENSP00000489147.1:p.Pro1345His
ENST00000414786.6:n.4222C>A
ENST00000445220.5:c.4016C>A	ENSP00000489407.1:p.Pro1339His