Canonical Allele Identifier: CA2645390706
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500288-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500288C>T , CM000663.2:g.45500288C>T GRCh38
NC_000001.10:g.45965960C>T , CM000663.1:g.45965960C>T GRCh37
NC_000001.9:g.45738547C>T NCBI36
NG_013378.1:g.5105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-45C>T ENSP00000383840.4:n.-45C>T
NM_015506.2:c.-45C>T NP_056321.2:n.-45C>T
NM_001330540.1:c.-267C>T NP_001317469.1:n.-267C>T
XM_005270724.5:c.-45C>T XP_005270781.1:n.-45C>T
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