Canonical Allele Identifier: CA515263759

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721872-C-A
• MyVariant Identifiers: chr22:g.51160300C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721872C>A , CM000684.2:g.50721872C>A	GRCh38
NC_000022.10:g.51160300C>A , CM000684.1:g.51160300C>A	GRCh37
NC_000022.9:g.49507166C>A	NCBI36
NG_008607.2:g.52518C>A
NG_070230.1:g.57656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3640C>A	ENSP00000489147.2:p.Pro1214Thr
ENST00000414786.7:n.4224C>A
ENST00000445220.7:c.2692C>A	ENSP00000489407.2:p.Pro898Thr
ENST00000664402.2:c.2182C>A	ENSP00000499475.1:p.Pro728Thr
ENST00000673971.2:c.*2638C>A	ENSP00000501192.1:n.*2638C>A
ENST00000445220.6:c.2692C>A	ENSP00000489407.2:p.Pro898Thr
ENST00000262795.6:c.3640C>A	ENSP00000489147.2:p.Pro1214Thr
ENST00000664402.1:c.2182C>A	ENSP00000499475.1:p.Pro728Thr
ENST00000673971.1:c.*2638C>A	ENSP00000501192.1:n.*2638C>A
ENST00000262795.5:c.4036C>A	ENSP00000489147.1:p.Pro1346Thr
ENST00000414786.6:n.4224C>A
ENST00000445220.5:c.4018C>A	ENSP00000489407.1:p.Pro1340Thr