Canonical Allele Identifier: CA2645390710
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500299-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500299C>T , CM000663.2:g.45500299C>T GRCh38
NC_000001.10:g.45965971C>T , CM000663.1:g.45965971C>T GRCh37
NC_000001.9:g.45738558C>T NCBI36
NG_013378.1:g.5116C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-34C>T ENSP00000383840.4:n.-34C>T
NM_015506.2:c.-34C>T NP_056321.2:n.-34C>T
NM_001330540.1:c.-256C>T NP_001317469.1:n.-256C>T
XM_005270724.5:c.-34C>T XP_005270781.1:n.-34C>T