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: CA783222370

Gene: GPX4 HGNC NCBI

Linked Data

dbSNP Id: rs1400603078

gnomAD v4: 19-1103957-C-A

MyVariant Identifiers: chr19:g.1103956C>A (hg19) chr19:g.1103957C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1103957C>A , CM000681.2:g.1103957C>A	GRCh38
NC_000019.9:g.1103956C>A , CM000681.1:g.1103956C>A	GRCh37
NC_000019.8:g.1054956C>A	NCBI36
NG_050621.1:g.5032C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354171.12:c.-87C>A	ENSP00000346103.7:n.-87C>A
ENST00000616066.4:c.-87C>A	ENSP00000485000.1:n.-87C>A
NM_001039847.2:c.-87C>A	NP_001034936.1:n.-87C>A
NM_002085.4:c.-87C>A	NP_002076.2:n.-87C>A

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