Canonical Allele Identifier: CA838737628
Gene: URGCP-MRPS24 HGNC NCBI

Linked Data

dbSNP Id: rs1392158696
gnomAD v3: 7-43871249-C-T
gnomAD v4: 7-43871249-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43871249C>T , CM000669.2:g.43871249C>T GRCh38
NC_000007.13:g.43910848C>T , CM000669.1:g.43910848C>T GRCh37
NC_000007.12:g.43877373C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000603700.1:c.176-1873G>A ENSP00000473871.1:n.176-1873G>A
NM_001204871.1:c.176-1873G>A NP_001191800.1:n.176-1873G>A
NM_001204871.2:c.176-1873G>A NP_001191800.1:n.176-1873G>A