Canonical Allele Identifier: CA2584968226
Gene: MRPS12 HGNC NCBI

Linked Data

gnomAD v4: 19-38930902-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38930902G>T , CM000681.2:g.38930902G>T GRCh38
NC_000019.9:g.39421542G>T , CM000681.1:g.39421542G>T GRCh37
NC_000019.8:g.44113382G>T NCBI36
NG_029222.1:g.5195G>T
NG_031865.1:g.4995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308018.8:c.-116G>T ENSP00000308845.3:n.-116G>T
ENST00000599996.1:c.476-4602C>A
NM_033362.3:c.-116G>T NP_203526.1:n.-116G>T
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