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.

Canonical Allele Identifier: CA10653486

Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 339660

ClinVar RCV Id: RCV001618599

dbSNP Id: rs7277748

gnomAD v2: 21-33031974-A-G

gnomAD v3: 21-31659661-A-G

gnomAD v4: 21-31659661-A-G

MyVariant Identifiers: chr21:g.33031974A>G (hg19) chr21:g.31659661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659661A>G , CM000683.2:g.31659661A>G	GRCh38
NC_000021.8:g.33031974A>G , CM000683.1:g.33031974A>G	GRCh37
NC_000021.7:g.31953845A>G	NCBI36
NG_008689.1:g.5040A>G , LRG_652:g.5040A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.10:c.-109A>G	ENSP00000270142.6:n.-109A>G
NM_000454.4:c.-109A>G , LRG_652t1:c.-109A>G	NP_000445.1:n.-109A>G

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