Canonical Allele Identifier: CA156963956
Gene: URGCP-MRPS24 HGNC NCBI

Linked Data

dbSNP Id: rs555669329
gnomAD v2: 7-43910767-C-G
gnomAD v3: 7-43871168-C-G
gnomAD v4: 7-43871168-C-G
MyVariant Identifiers: chr7:g.43910767C>G (hg19) chr7:g.43871168C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43871168C>G , CM000669.2:g.43871168C>G GRCh38
NC_000007.13:g.43910767C>G , CM000669.1:g.43910767C>G GRCh37
NC_000007.12:g.43877292C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000603700.1:c.176-1792G>C ENSP00000473871.1:n.176-1792G>C
NM_001204871.1:c.176-1792G>C NP_001191800.1:n.176-1792G>C
NM_001204871.2:c.176-1792G>C NP_001191800.1:n.176-1792G>C
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