Canonical Allele Identifier: CA1100722851
Gene: URGCP-MRPS24 HGNC NCBI

Linked Data

dbSNP Id: rs2095840317
gnomAD v3: 7-43871224-G-T
gnomAD v4: 7-43871224-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43871224G>T , CM000669.2:g.43871224G>T GRCh38
NC_000007.13:g.43910823G>T , CM000669.1:g.43910823G>T GRCh37
NC_000007.12:g.43877348G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000603700.1:c.176-1848C>A ENSP00000473871.1:n.176-1848C>A
NM_001204871.1:c.176-1848C>A NP_001191800.1:n.176-1848C>A
NM_001204871.2:c.176-1848C>A NP_001191800.1:n.176-1848C>A
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