Canonical Allele Identifier: CA2335270817
Gene: SARS2 HGNC NCBI
MRPS12 HGNC NCBI

Linked Data

dbSNP Id: rs1456236430
gnomAD v4: 19-38930777-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38930777C>T , CM000681.2:g.38930777C>T GRCh38
NC_000019.9:g.39421417C>T , CM000681.1:g.39421417C>T GRCh37
NC_000019.8:g.44113257C>T NCBI36
NG_029222.1:g.5070C>T
NG_031865.1:g.5120G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221431.10:c.-41G>A (SARS2) ENSP00000221431.5:n.-41G>A
ENST00000308018.8:c.-241C>T (MRPS12) ENSP00000308845.3:n.-241C>T
ENST00000599996.1:c.476-4477G>A
NM_001145901.1:c.-41G>A (SARS2) NP_001139373.1:n.-41G>A
NM_017827.3:c.-41G>A (SARS2) NP_060297.1:n.-41G>A
NM_033362.3:c.-241C>T (MRPS12) NP_203526.1:n.-241C>T
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