Canonical Allele Identifier: CA2574352150
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500255-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500255C>T , CM000663.2:g.45500255C>T GRCh38
NC_000001.10:g.45965927C>T , CM000663.1:g.45965927C>T GRCh37
NC_000001.9:g.45738514C>T NCBI36
NG_013378.1:g.5072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-78C>T ENSP00000383840.4:n.-78C>T
NM_015506.2:c.-78C>T NP_056321.2:n.-78C>T
NM_001330540.1:c.-300C>T NP_001317469.1:n.-300C>T
XM_005270724.5:c.-78C>T XP_005270781.1:n.-78C>T