Canonical Allele Identifier: CA2645390711
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500299-C-G

Genomic Alleles

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

Transcript Alleles

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