Canonical Allele Identifier: CA156964031
Gene: URGCP-MRPS24 HGNC NCBI

Linked Data

dbSNP Id: rs10232743
gnomAD v2: 7-43910882-C-T
gnomAD v3: 7-43871283-C-T
gnomAD v4: 7-43871283-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43871283C>T , CM000669.2:g.43871283C>T GRCh38
NC_000007.13:g.43910882C>T , CM000669.1:g.43910882C>T GRCh37
NC_000007.12:g.43877407C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000603700.1:c.176-1907G>A ENSP00000473871.1:n.176-1907G>A
NM_001204871.1:c.176-1907G>A NP_001191800.1:n.176-1907G>A
NM_001204871.2:c.176-1907G>A NP_001191800.1:n.176-1907G>A