Canonical Allele Identifier: CA156963955

Gene: URGCP-MRPS24

Linked Data

• dbSNP Id: rs1008983522
• gnomAD v3: 7-43871163-C-T
• gnomAD v4: 7-43871163-C-T
• COSMIC: COSN22608543
• MyVariant Identifiers: chr7:g.43910762C>T (hg19) ; chr7:g.43871163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43871163C>T , CM000669.2:g.43871163C>T	GRCh38
NC_000007.13:g.43910762C>T , CM000669.1:g.43910762C>T	GRCh37
NC_000007.12:g.43877287C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000603700.1:c.176-1787G>A	ENSP00000473871.1:n.176-1787G>A
NM_001204871.1:c.176-1787G>A	NP_001191800.1:n.176-1787G>A
NM_001204871.2:c.176-1787G>A	NP_001191800.1:n.176-1787G>A