Canonical Allele Identifier: CA515263583

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721816-C-A
• MyVariant Identifiers: chr22:g.51160244C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721816C>A , CM000684.2:g.50721816C>A	GRCh38
NC_000022.10:g.51160244C>A , CM000684.1:g.51160244C>A	GRCh37
NC_000022.9:g.49507110C>A	NCBI36
NG_008607.2:g.52462C>A
NG_070230.1:g.57600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3584C>A	ENSP00000489147.2:p.Pro1195His
ENST00000414786.7:n.4168C>A
ENST00000445220.7:c.2636C>A	ENSP00000489407.2:p.Pro879His
ENST00000664402.2:c.2126C>A	ENSP00000499475.1:p.Pro709His
ENST00000673971.2:c.*2582C>A	ENSP00000501192.1:n.*2582C>A
ENST00000445220.6:c.2636C>A	ENSP00000489407.2:p.Pro879His
ENST00000262795.6:c.3584C>A	ENSP00000489147.2:p.Pro1195His
ENST00000664402.1:c.2126C>A	ENSP00000499475.1:p.Pro709His
ENST00000673971.1:c.*2582C>A	ENSP00000501192.1:n.*2582C>A
ENST00000262795.5:c.3980C>A	ENSP00000489147.1:p.Pro1327His
ENST00000414786.6:n.4168C>A
ENST00000445220.5:c.3962C>A	ENSP00000489407.1:p.Pro1321His