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: CA10651751

Gene: PEPD HGNC NCBI

Linked Data

ClinVar Variation Id: 328828

ClinVar RCV Id: RCV000303209

dbSNP Id: rs886054338

gnomAD v3: 19-33521890-A-G

gnomAD v4: 19-33521890-A-G

MyVariant Identifiers: chr19:g.34012796A>G (hg19) chr19:g.33521890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521890A>G , CM000681.2:g.33521890A>G	GRCh38
NC_000019.9:g.34012796A>G , CM000681.1:g.34012796A>G	GRCh37
NC_000019.8:g.38704636A>G	NCBI36
NG_013358.1:g.5004T>C
NG_013358.2:g.5004T>C

Transcript Alleles

HGVS	Amino-acid change
NM_000285.3:c.-130T>C	NP_000276.2:n.-130T>C
NM_001166056.1:c.-130T>C	NP_001159528.1:n.-130T>C
NM_001166057.1:c.-130T>C	NP_001159529.1:n.-130T>C

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