Canonical Allele Identifier: CA934470605
Gene: MRPL23 HGNC NCBI

Linked Data

dbSNP Id: rs1856508561
gnomAD v3: 11-1963827-T-C
gnomAD v4: 11-1963827-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1963827T>C , CM000673.2:g.1963827T>C GRCh38
NC_000011.9:g.1985057T>C , CM000673.1:g.1985057T>C GRCh37
NC_000011.8:g.1941633T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000397294.7:c.298-8732T>C ENSP00000380462.3:n.298-8732T>C
ENST00000397297.7:c.298-8732T>C ENSP00000380465.3:n.298-8732T>C
XM_011520273.1:c.298-8732T>C XP_011518575.1:n.298-8732T>C
XM_011520274.1:c.292-8732T>C XP_011518576.1:n.292-8732T>C
XM_011520275.1:c.298-8732T>C XP_011518577.1:n.298-8732T>C
XM_011520276.1:c.298-8732T>C XP_011518578.1:n.298-8732T>C
XM_011520275.2:c.298-8732T>C XP_011518577.1:n.298-8732T>C
XM_011520276.3:c.298-8732T>C XP_011518578.1:n.298-8732T>C
NM_001400176.1:c.298-8732T>C NP_001387105.1:n.298-8732T>C
NM_001400179.1:c.298-8732T>C NP_001387108.1:n.298-8732T>C