Canonical Allele Identifier: CA2645390690
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500245-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500245G>A , CM000663.2:g.45500245G>A GRCh38
NC_000001.10:g.45965917G>A , CM000663.1:g.45965917G>A GRCh37
NC_000001.9:g.45738504G>A NCBI36
NG_013378.1:g.5062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-88G>A ENSP00000383840.4:n.-88G>A
NM_015506.2:c.-88G>A NP_056321.2:n.-88G>A
NM_001330540.1:c.-310G>A NP_001317469.1:n.-310G>A
XM_005270724.5:c.-88G>A XP_005270781.1:n.-88G>A
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