Canonical Allele Identifier: CA340131433
Gene: MMACHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45973066C>A (hg19) chr1:g.45507394C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507394C>A , CM000663.2:g.45507394C>A GRCh38
NC_000001.10:g.45973066C>A , CM000663.1:g.45973066C>A GRCh37
NC_000001.9:g.45745653C>A NCBI36
NG_013378.1:g.12211C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.120C>A MANE Select ENSP00000383840.4:p.His40Gln
ENST00000401061.8:c.120C>A ENSP00000383840.4:p.His40Gln
ENST00000616135.1:c.-52C>A ENSP00000478859.1:n.-52C>A
NM_015506.2:c.120C>A NP_056321.2:p.His40Gln
XM_005270724.3:c.82-818C>A XP_005270781.1:n.82-818C>A
XM_011541204.1:c.-52C>A XP_011539506.1:n.-52C>A
NM_001330540.1:c.-52C>A NP_001317469.1:n.-52C>A
XM_005270724.5:c.82-818C>A XP_005270781.1:n.82-818C>A
NM_015506.3:c.120C>A MANE Select NP_056321.2:p.His40Gln
NM_001330540.2:c.-52C>A NP_001317469.1:n.-52C>A
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