Canonical Allele Identifier: CA827598
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 973438
ClinVar RCV Id: RCV001250055
dbSNP Id: rs377405910
ExAC: 1:45966023 G / A
gnomAD v2: 1-45966023-G-A
gnomAD v3: 1-45500351-G-A
gnomAD v4: 1-45500351-G-A
MyVariant Identifiers: chr1:g.45966023G>A (hg19) chr1:g.45500351G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500351G>A , CM000663.2:g.45500351G>A GRCh38
NC_000001.10:g.45966023G>A , CM000663.1:g.45966023G>A GRCh37
NC_000001.9:g.45738610G>A NCBI36
NG_013378.1:g.5168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.19G>A MANE Select ENSP00000383840.4:p.Glu7Lys
ENST00000401061.8:c.19G>A ENSP00000383840.4:p.Glu7Lys
ENST00000616135.1:c.-153G>A ENSP00000478859.1:n.-153G>A
NM_015506.2:c.19G>A NP_056321.2:p.Glu7Lys
XM_005270724.3:c.19G>A XP_005270781.1:p.Glu7Lys
XM_011541204.1:c.-204G>A XP_011539506.1:n.-204G>A
NM_001330540.1:c.-204G>A NP_001317469.1:n.-204G>A
XM_005270724.5:c.19G>A XP_005270781.1:p.Glu7Lys
NM_015506.3:c.19G>A MANE Select NP_056321.2:p.Glu7Lys
NM_001330540.2:c.-204G>A NP_001317469.1:n.-204G>A
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