Canonical Allele Identifier: CA2473780160
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1643512771
gnomAD v4: 1-45500275-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500275A>G , CM000663.2:g.45500275A>G GRCh38
NC_000001.10:g.45965947A>G , CM000663.1:g.45965947A>G GRCh37
NC_000001.9:g.45738534A>G NCBI36
NG_013378.1:g.5092A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-58A>G ENSP00000383840.4:n.-58A>G
NM_015506.2:c.-58A>G NP_056321.2:n.-58A>G
NM_001330540.1:c.-280A>G NP_001317469.1:n.-280A>G
XM_005270724.5:c.-58A>G XP_005270781.1:n.-58A>G