Canonical Allele Identifier: CA827654
Gene: MMACHC HGNC NCBI
ClinVar RCV:
RCV000585794
RCV003323623
RCV003465319
ClinVar Variation:
495216
dbSNP:
756980496
gnomAD v2:
1:45973104 T / C
gnomAD v4:
chr1-45507432-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr1:g.45507432T>C
GRCh37 chr1:g.45973104T>C
Revel Score:
ENST00000401061 (MANE Select) 0.983
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507432T>C , CM000663.2:g.45507432T>C GRCh38
NC_000001.10:g.45973104T>C , CM000663.1:g.45973104T>C GRCh37
NC_000001.9:g.45745691T>C NCBI36
NG_013378.1:g.12249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.158T>C MANE Select ENSP00000383840.4:p.Leu53Pro
ENST00000401061.8:c.158T>C ENSP00000383840.4:p.Leu53Pro
ENST00000616135.1:c.-14T>C ENSP00000478859.1:n.-14T>C
NM_015506.2:c.158T>C NP_056321.2:p.Leu53Pro
XM_005270724.3:c.82-780T>C XP_005270781.1:n.82-780T>C
XM_011541204.1:c.-14T>C XP_011539506.1:n.-14T>C
NM_001330540.1:c.-14T>C NP_001317469.1:n.-14T>C
XM_005270724.5:c.82-780T>C XP_005270781.1:n.82-780T>C
NM_015506.3:c.158T>C MANE Select NP_056321.2:p.Leu53Pro
NM_001330540.2:c.-14T>C NP_001317469.1:n.-14T>C
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