Canonical Allele Identifier: CA827705
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 775548
ClinVar RCV Id: RCV000955713 RCV001277242 RCV002509584 RCV003127556 RCV003943077
dbSNP Id: rs200300254
ExAC: 1:45973939 G / A
gnomAD v2: 1-45973939-G-A
gnomAD v3: 1-45508267-G-A
gnomAD v4: 1-45508267-G-A
COSMIC: COSM1343053
MyVariant Identifiers: chr1:g.45973939G>A (hg19) chr1:g.45508267G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508267G>A , CM000663.2:g.45508267G>A GRCh38
NC_000001.10:g.45973939G>A , CM000663.1:g.45973939G>A GRCh37
NC_000001.9:g.45746526G>A NCBI36
NG_013378.1:g.13084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.332G>A MANE Select ENSP00000383840.4:p.Arg111Gln
ENST00000401061.8:c.332G>A ENSP00000383840.4:p.Arg111Gln
ENST00000616135.1:c.161G>A ENSP00000478859.1:p.Arg54Gln
NM_015506.2:c.332G>A NP_056321.2:p.Arg111Gln
XM_005270724.3:c.137G>A XP_005270781.1:p.Arg46Gln
XM_011541204.1:c.161G>A XP_011539506.1:p.Arg54Gln
NM_001330540.1:c.161G>A NP_001317469.1:p.Arg54Gln
XM_005270724.5:c.137G>A XP_005270781.1:p.Arg46Gln
NM_015506.3:c.332G>A MANE Select NP_056321.2:p.Arg111Gln
NM_001330540.2:c.161G>A NP_001317469.1:p.Arg54Gln
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Search 100 bp 3'