Canonical Allele Identifier: CA827596
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 1405023
ClinVar RCV Id: RCV001899154
dbSNP Id: rs780981680
ExAC: 1:45966018 T / A
gnomAD v2: 1-45966018-T-A
gnomAD v4: 1-45500346-T-A
MyVariant Identifiers: chr1:g.45966018T>A (hg19) chr1:g.45500346T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500346T>A , CM000663.2:g.45500346T>A GRCh38
NC_000001.10:g.45966018T>A , CM000663.1:g.45966018T>A GRCh37
NC_000001.9:g.45738605T>A NCBI36
NG_013378.1:g.5163T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.14T>A MANE Select ENSP00000383840.4:p.Val5Asp
ENST00000401061.8:c.14T>A ENSP00000383840.4:p.Val5Asp
ENST00000616135.1:c.-158T>A ENSP00000478859.1:n.-158T>A
NM_015506.2:c.14T>A NP_056321.2:p.Val5Asp
XM_005270724.3:c.14T>A XP_005270781.1:p.Val5Asp
XM_011541204.1:c.-209T>A XP_011539506.1:n.-209T>A
NM_001330540.1:c.-209T>A NP_001317469.1:n.-209T>A
XM_005270724.5:c.14T>A XP_005270781.1:p.Val5Asp
NM_015506.3:c.14T>A MANE Select NP_056321.2:p.Val5Asp
NM_001330540.2:c.-209T>A NP_001317469.1:n.-209T>A
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