Canonical Allele Identifier: CA272840
Gene: MMACHC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.45507550G>A
GRCh37 chr1:g.45973222G>A
gnomAD v3:
1:45507550 G / A
gnomAD v4:
chr1-45507550-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000148299
ClinVar Variation:
161118
dbSNP:
556977618
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507550G>A , CM000663.2:g.45507550G>A GRCh38
NC_000001.10:g.45973222G>A , CM000663.1:g.45973222G>A GRCh37
NC_000001.9:g.45745809G>A NCBI36
NG_013378.1:g.12367G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.276G>A MANE Select ENSP00000383840.4:p.Glu92=
ENST00000401061.8:c.276G>A ENSP00000383840.4:p.Glu92=
ENST00000616135.1:c.105G>A ENSP00000478859.1:p.Glu35=
NM_015506.2:c.276G>A NP_056321.2:p.Glu92=
XM_005270724.3:c.82-662G>A XP_005270781.1:n.82-662G>A
XM_011541204.1:c.105G>A XP_011539506.1:p.Glu35=
NM_001330540.1:c.105G>A NP_001317469.1:p.Glu35=
XM_005270724.5:c.82-662G>A XP_005270781.1:n.82-662G>A
NM_015506.3:c.276G>A MANE Select NP_056321.2:p.Glu92=
NM_001330540.2:c.105G>A NP_001317469.1:p.Glu35=
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