Canonical Allele Identifier: CA995758470
Gene: MRPS12 HGNC NCBI

Linked Data

dbSNP Id: rs1974733699
gnomAD v3: 19-38930899-G-T
gnomAD v4: 19-38930899-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38930899G>T , CM000681.2:g.38930899G>T GRCh38
NC_000019.9:g.39421539G>T , CM000681.1:g.39421539G>T GRCh37
NC_000019.8:g.44113379G>T NCBI36
NG_029222.1:g.5192G>T
NG_031865.1:g.4998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308018.8:c.-119G>T ENSP00000308845.3:n.-119G>T
ENST00000599996.1:c.476-4599C>A
NM_033362.3:c.-119G>T NP_203526.1:n.-119G>T
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