Canonical Allele Identifier: CA827673
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2078686
ClinVar RCV Id: RCV002988767 RCV002993899
dbSNP Id: rs376520909
ExAC: 1:45973212 G / A
gnomAD v2: 1-45973212-G-A
gnomAD v3: 1-45507540-G-A
gnomAD v4: 1-45507540-G-A
COSMIC: COSM2190531
MyVariant Identifiers: chr1:g.45973212G>A (hg19) chr1:g.45507540G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507540G>A , CM000663.2:g.45507540G>A GRCh38
NC_000001.10:g.45973212G>A , CM000663.1:g.45973212G>A GRCh37
NC_000001.9:g.45745799G>A NCBI36
NG_013378.1:g.12357G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.266G>A MANE Select ENSP00000383840.4:p.Arg89His
ENST00000401061.8:c.266G>A ENSP00000383840.4:p.Arg89His
ENST00000616135.1:c.95G>A ENSP00000478859.1:p.Arg32His
NM_015506.2:c.266G>A NP_056321.2:p.Arg89His
XM_005270724.3:c.82-672G>A XP_005270781.1:n.82-672G>A
XM_011541204.1:c.95G>A XP_011539506.1:p.Arg32His
NM_001330540.1:c.95G>A NP_001317469.1:p.Arg32His
XM_005270724.5:c.82-672G>A XP_005270781.1:n.82-672G>A
NM_015506.3:c.266G>A MANE Select NP_056321.2:p.Arg89His
NM_001330540.2:c.95G>A NP_001317469.1:p.Arg32His
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