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: CA838737624

Gene: URGCP-MRPS24 HGNC NCBI

Linked Data

dbSNP Id: rs1383701901

gnomAD v3: 7-43871242-C-A

gnomAD v4: 7-43871242-C-A

MyVariant Identifiers: chr7:g.43910841C>A (hg19) chr7:g.43871242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43871242C>A , CM000669.2:g.43871242C>A	GRCh38
NC_000007.13:g.43910841C>A , CM000669.1:g.43910841C>A	GRCh37
NC_000007.12:g.43877366C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000603700.1:c.176-1866G>T	ENSP00000473871.1:n.176-1866G>T
NM_001204871.1:c.176-1866G>T	NP_001191800.1:n.176-1866G>T
NM_001204871.2:c.176-1866G>T	NP_001191800.1:n.176-1866G>T

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