Canonical Allele Identifier: CA1624836973
Gene: MRPL14 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44124392T>C , CM000668.2:g.44124392T>C GRCh38
NC_000006.11:g.44092129T>C , CM000668.1:g.44092129T>C GRCh37
NC_000006.10:g.44200107T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372014.5:c.-19+2952A>G (MRPL14) MANE Select ENSP00000361084.3:n.-19+2952A>G
ENST00000372014.4:c.-19+2952A>G (MRPL14) ENSP00000361084.3:n.-19+2952A>G
NM_032111.2:c.-19+2952A>G (MRPL14) NP_115487.2:n.-19+2952A>G
XM_005249299.3:c.141+1561A>G (MRPL14) XP_005249356.1:n.141+1561A>G
XM_005249300.2:c.-19+2863A>G (MRPL14) XP_005249357.1:n.-19+2863A>G
XM_005249301.3:c.-19+2991A>G (MRPL14) XP_005249358.1:n.-19+2991A>G
XM_011514814.1:c.15+2241A>G (MRPL14) XP_011513116.1:n.15+2241A>G
NM_001318767.1:c.-19+2991A>G (MRPL14) NP_001305696.1:n.-19+2991A>G
NM_001318768.1:c.-19+2863A>G (MRPL14) NP_001305697.1:n.-19+2863A>G
NM_001318769.1:c.15+2241A>G (MRPL14) NP_001305698.1:n.15+2241A>G
NM_001318770.1:c.141+1561A>G (MRPL14) NP_001305699.1:n.141+1561A>G
NM_001318771.1:c.-32+2952A>G (MRPL14) NP_001305700.1:n.-32+2952A>G
NM_032111.3:c.-19+2952A>G (MRPL14) NP_115487.2:n.-19+2952A>G
NM_032111.4:c.-19+2952A>G (MRPL14) MANE Select NP_115487.2:n.-19+2952A>G
NM_001318767.2:c.-19+2991A>G (MRPL14) NP_001305696.1:n.-19+2991A>G
NM_001318768.2:c.-19+2863A>G (MRPL14) NP_001305697.1:n.-19+2863A>G
NM_001318769.2:c.15+2241A>G (MRPL14) NP_001305698.1:n.15+2241A>G
NM_001318770.2:c.141+1561A>G (MRPL14) NP_001305699.1:n.141+1561A>G
NM_001318771.2:c.-32+2952A>G (MRPL14) NP_001305700.1:n.-32+2952A>G
NM_001318876.2:c.946-317498T>C (POLR1C) NP_001305805.1:n.946-317498T>C