Canonical Allele Identifier: CA2645390700
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500271del , CM000663.2:g.45500271del GRCh38
NC_000001.10:g.45965943del , CM000663.1:g.45965943del GRCh37
NC_000001.9:g.45738530del NCBI36
NG_013378.1:g.5088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-62del ENSP00000383840.4:n.-62del
NM_015506.2:c.-62del NP_056321.2:n.-62del
NM_001330540.1:c.-284del NP_001317469.1:n.-284del
XM_005270724.5:c.-62del XP_005270781.1:n.-62del