Canonical Allele Identifier: CA312724
Gene: MMACHC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.45500335G>A
GRCh37 chr1:g.45966007G>A
Revel Score:
ENST00000401061 (MANE Select) 0.750
gnomAD v2:
1:45966007 G / A
gnomAD v3:
1:45500335 G / A
gnomAD v4:
chr1-45500335-G-A
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000309 (NFE)
ClinVar RCV:
RCV000664762
RCV001272216
ClinVar Variation:
203823
dbSNP:
779893448
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500335G>A , CM000663.2:g.45500335G>A GRCh38
NC_000001.10:g.45966007G>A , CM000663.1:g.45966007G>A GRCh37
NC_000001.9:g.45738594G>A NCBI36
NG_013378.1:g.5152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.3G>A MANE Select ENSP00000383840.4:p.Met1Ile
ENST00000401061.8:c.3G>A ENSP00000383840.4:p.Met1Ile
NM_015506.2:c.3G>A NP_056321.2:p.Met1Ile
XM_005270724.3:c.3G>A XP_005270781.1:p.Met1Ile
XM_011541204.1:c.-220G>A XP_011539506.1:n.-220G>A
NM_001330540.1:c.-220G>A NP_001317469.1:n.-220G>A
XM_005270724.5:c.3G>A XP_005270781.1:p.Met1Ile
NM_015506.3:c.3G>A MANE Select NP_056321.2:p.Met1Ile
NM_001330540.2:c.-220G>A NP_001317469.1:n.-220G>A
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