Canonical Allele Identifier: CA21825952
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 1524960
ClinVar RCV Id: RCV002032102
dbSNP Id: rs371004372
gnomAD v2: 1-45966057-C-T
gnomAD v3: 1-45500385-C-T
gnomAD v4: 1-45500385-C-T
MyVariant Identifiers: chr1:g.45966057C>T (hg19) chr1:g.45500385C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500385C>T , CM000663.2:g.45500385C>T GRCh38
NC_000001.10:g.45966057C>T , CM000663.1:g.45966057C>T GRCh37
NC_000001.9:g.45738644C>T NCBI36
NG_013378.1:g.5202C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.53C>T MANE Select ENSP00000383840.4:p.Pro18Leu
ENST00000401061.8:c.53C>T ENSP00000383840.4:p.Pro18Leu
ENST00000616135.1:c.-119C>T ENSP00000478859.1:n.-119C>T
NM_015506.2:c.53C>T NP_056321.2:p.Pro18Leu
XM_005270724.3:c.53C>T XP_005270781.1:p.Pro18Leu
XM_011541204.1:c.-170C>T XP_011539506.1:n.-170C>T
NM_001330540.1:c.-170C>T NP_001317469.1:n.-170C>T
XM_005270724.5:c.53C>T XP_005270781.1:p.Pro18Leu
NM_015506.3:c.53C>T MANE Select NP_056321.2:p.Pro18Leu
NM_001330540.2:c.-170C>T NP_001317469.1:n.-170C>T
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