Canonical Allele Identifier: CA2645390657
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500208-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500208C>A , CM000663.2:g.45500208C>A GRCh38
NC_000001.10:g.45965880C>A , CM000663.1:g.45965880C>A GRCh37
NC_000001.9:g.45738467C>A NCBI36
NG_013378.1:g.5025C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-125C>A ENSP00000383840.4:n.-125C>A
NM_015506.2:c.-125C>A NP_056321.2:n.-125C>A
NM_001330540.1:c.-347C>A NP_001317469.1:n.-347C>A
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