Canonical Allele Identifier: CA827647
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs774414508
gnomAD v2: 1-45973077-C-G
gnomAD v3: 1-45507405-C-G
gnomAD v4: 1-45507405-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507405C>G , CM000663.2:g.45507405C>G GRCh38
NC_000001.10:g.45973077C>G , CM000663.1:g.45973077C>G GRCh37
NC_000001.9:g.45745664C>G NCBI36
NG_013378.1:g.12222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.131C>G MANE Select ENSP00000383840.4:p.Pro44Arg
ENST00000401061.8:c.131C>G ENSP00000383840.4:p.Pro44Arg
ENST00000616135.1:c.-41C>G ENSP00000478859.1:n.-41C>G
NM_015506.2:c.131C>G NP_056321.2:p.Pro44Arg
XM_005270724.3:c.82-807C>G XP_005270781.1:n.82-807C>G
XM_011541204.1:c.-41C>G XP_011539506.1:n.-41C>G
NM_001330540.1:c.-41C>G NP_001317469.1:n.-41C>G
XM_005270724.5:c.82-807C>G XP_005270781.1:n.82-807C>G
NM_015506.3:c.131C>G MANE Select NP_056321.2:p.Pro44Arg
NM_001330540.2:c.-41C>G NP_001317469.1:n.-41C>G