Canonical Allele Identifier: CA2645390655
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500206-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500206G>T , CM000663.2:g.45500206G>T GRCh38
NC_000001.10:g.45965878G>T , CM000663.1:g.45965878G>T GRCh37
NC_000001.9:g.45738465G>T NCBI36
NG_013378.1:g.5023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-127G>T ENSP00000383840.4:n.-127G>T
NM_015506.2:c.-127G>T NP_056321.2:n.-127G>T
NM_001330540.1:c.-349G>T NP_001317469.1:n.-349G>T
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