Canonical Allele Identifier: CA515259816

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2609684
• ClinVar RCV Id: RCV003375991
• dbSNP Id: rs1360881506
• gnomAD v2: 22-51159055-G-A
• gnomAD v3: 22-50720627-G-A
• gnomAD v4: 22-50720627-G-A
• MyVariant Identifiers: chr22:g.51159055G>A (hg19) ; chr22:g.50720627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720627G>A , CM000684.2:g.50720627G>A	GRCh38
NC_000022.10:g.51159055G>A , CM000684.1:g.51159055G>A	GRCh37
NC_000022.9:g.49505921G>A	NCBI36
NG_008607.2:g.51273G>A
NG_070230.1:g.56411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2395G>A	ENSP00000489147.2:p.Ala799Thr
ENST00000414786.7:n.2979G>A
ENST00000445220.7:c.1447G>A	ENSP00000489407.2:p.Ala483Thr
ENST00000664402.2:c.937G>A	ENSP00000499475.1:p.Ala313Thr
ENST00000673971.2:c.*1393G>A	ENSP00000501192.1:n.*1393G>A
ENST00000445220.6:c.1447G>A	ENSP00000489407.2:p.Ala483Thr
ENST00000262795.6:c.2395G>A	ENSP00000489147.2:p.Ala799Thr
ENST00000664402.1:c.937G>A	ENSP00000499475.1:p.Ala313Thr
ENST00000673971.1:c.*1393G>A	ENSP00000501192.1:n.*1393G>A
ENST00000262795.5:c.2791G>A	ENSP00000489147.1:p.Ala931Thr
ENST00000414786.6:n.2979G>A
ENST00000445220.5:c.2773G>A	ENSP00000489407.1:p.Ala925Thr