Canonical Allele Identifier: CA340128512
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500370-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500370A>G , CM000663.2:g.45500370A>G GRCh38
NC_000001.10:g.45966042A>G , CM000663.1:g.45966042A>G GRCh37
NC_000001.9:g.45738629A>G NCBI36
NG_013378.1:g.5187A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.38A>G MANE Select ENSP00000383840.4:p.Glu13Gly
ENST00000401061.8:c.38A>G ENSP00000383840.4:p.Glu13Gly
ENST00000616135.1:c.-134A>G ENSP00000478859.1:n.-134A>G
NM_015506.2:c.38A>G NP_056321.2:p.Glu13Gly
XM_005270724.3:c.38A>G XP_005270781.1:p.Glu13Gly
XM_011541204.1:c.-185A>G XP_011539506.1:n.-185A>G
NM_001330540.1:c.-185A>G NP_001317469.1:n.-185A>G
XM_005270724.5:c.38A>G XP_005270781.1:p.Glu13Gly
NM_015506.3:c.38A>G MANE Select NP_056321.2:p.Glu13Gly
NM_001330540.2:c.-185A>G NP_001317469.1:n.-185A>G