Canonical Allele Identifier: CA340128544
Gene: MMACHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45966046C>A (hg19) chr1:g.45500374C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500374C>A , CM000663.2:g.45500374C>A GRCh38
NC_000001.10:g.45966046C>A , CM000663.1:g.45966046C>A GRCh37
NC_000001.9:g.45738633C>A NCBI36
NG_013378.1:g.5191C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.42C>A MANE Select ENSP00000383840.4:p.Asp14Glu
ENST00000401061.8:c.42C>A ENSP00000383840.4:p.Asp14Glu
ENST00000616135.1:c.-130C>A ENSP00000478859.1:n.-130C>A
NM_015506.2:c.42C>A NP_056321.2:p.Asp14Glu
XM_005270724.3:c.42C>A XP_005270781.1:p.Asp14Glu
XM_011541204.1:c.-181C>A XP_011539506.1:n.-181C>A
NM_001330540.1:c.-181C>A NP_001317469.1:n.-181C>A
XM_005270724.5:c.42C>A XP_005270781.1:p.Asp14Glu
NM_015506.3:c.42C>A MANE Select NP_056321.2:p.Asp14Glu
NM_001330540.2:c.-181C>A NP_001317469.1:n.-181C>A
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