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: CA783222366

Gene: GPX4 HGNC NCBI

Linked Data

dbSNP Id: rs1324508352

gnomAD v3: 19-1103948-A-G

gnomAD v4: 19-1103948-A-G

MyVariant Identifiers: chr19:g.1103947A>G (hg19) chr19:g.1103948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1103948A>G , CM000681.2:g.1103948A>G	GRCh38
NC_000019.9:g.1103947A>G , CM000681.1:g.1103947A>G	GRCh37
NC_000019.8:g.1054947A>G	NCBI36
NG_050621.1:g.5023A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354171.12:c.-96A>G	ENSP00000346103.7:n.-96A>G
ENST00000616066.4:c.-96A>G	ENSP00000485000.1:n.-96A>G
NM_001039847.2:c.-96A>G	NP_001034936.1:n.-96A>G
NM_002085.4:c.-96A>G	NP_002076.2:n.-96A>G

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