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: CA156963987

Gene: URGCP-MRPS24 HGNC NCBI

Linked Data

dbSNP Id: rs898121526

MyVariant Identifiers: chr7:g.43910786C>T (hg19) chr7:g.43871187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43871187C>T , CM000669.2:g.43871187C>T	GRCh38
NC_000007.13:g.43910786C>T , CM000669.1:g.43910786C>T	GRCh37
NC_000007.12:g.43877311C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000603700.1:c.176-1811G>A	ENSP00000473871.1:n.176-1811G>A
NM_001204871.1:c.176-1811G>A	NP_001191800.1:n.176-1811G>A
NM_001204871.2:c.176-1811G>A	NP_001191800.1:n.176-1811G>A

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