Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA325553892

Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1196977

ClinVar RCV Id: RCV001560651

dbSNP Id: rs1053116057

gnomAD v4: 22-50697586-G-A

MyVariant Identifiers: chr22:g.51136014G>A (hg19) chr22:g.50697586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697586G>A , CM000684.2:g.50697586G>A	GRCh38
NC_000022.10:g.51136014G>A , CM000684.1:g.51136014G>A	GRCh37
NC_000022.9:g.49482880G>A	NCBI36
NG_008607.2:g.28232G>A
NG_070230.1:g.33451G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.970G>A	ENSP00000489147.2:p.Ala324Thr
ENST00000414786.7:n.1554G>A
ENST00000445220.7:c.22G>A	ENSP00000489407.2:p.Ala8Thr
ENST00000673971.2:c.1327G>A	ENSP00000501192.1:p.Ala443Thr
ENST00000445220.6:c.22G>A	ENSP00000489407.2:p.Ala8Thr
ENST00000262795.6:c.970G>A	ENSP00000489147.2:p.Ala324Thr
ENST00000673971.1:c.1327G>A	ENSP00000501192.1:p.Ala443Thr
ENST00000673995.1:c.23G>A
ENST00000262795.5:c.1366G>A	ENSP00000489147.1:p.Ala456Thr
ENST00000414786.6:n.1554G>A
ENST00000445220.5:c.1348G>A	ENSP00000489407.1:p.Ala450Thr