Canonical Allele Identifier: CA515259800

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083276245
• gnomAD v4: 22-50720622-C-A
• MyVariant Identifiers: chr22:g.51159050C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720622C>A , CM000684.2:g.50720622C>A	GRCh38
NC_000022.10:g.51159050C>A , CM000684.1:g.51159050C>A	GRCh37
NC_000022.9:g.49505916C>A	NCBI36
NG_008607.2:g.51268C>A
NG_070230.1:g.56406C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2390C>A	ENSP00000489147.2:p.Pro797His
ENST00000414786.7:n.2974C>A
ENST00000445220.7:c.1442C>A	ENSP00000489407.2:p.Pro481His
ENST00000664402.2:c.932C>A	ENSP00000499475.1:p.Pro311His
ENST00000673971.2:c.*1388C>A	ENSP00000501192.1:n.*1388C>A
ENST00000445220.6:c.1442C>A	ENSP00000489407.2:p.Pro481His
ENST00000262795.6:c.2390C>A	ENSP00000489147.2:p.Pro797His
ENST00000664402.1:c.932C>A	ENSP00000499475.1:p.Pro311His
ENST00000673971.1:c.*1388C>A	ENSP00000501192.1:n.*1388C>A
ENST00000262795.5:c.2786C>A	ENSP00000489147.1:p.Pro929His
ENST00000414786.6:n.2974C>A
ENST00000445220.5:c.2768C>A	ENSP00000489407.1:p.Pro923His