Canonical Allele Identifier: CA2597128709
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v3: 1-45508629-C-T
gnomAD v4: 1-45508629-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508629C>T , CM000663.2:g.45508629C>T GRCh38
NC_000001.10:g.45974301C>T , CM000663.1:g.45974301C>T GRCh37
NC_000001.9:g.45746888C>T NCBI36
NG_013378.1:g.13446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.430-167C>T MANE Select ENSP00000383840.4:n.430-167C>T
ENST00000401061.8:c.430-167C>T ENSP00000383840.4:n.430-167C>T
ENST00000616135.1:c.259-167C>T ENSP00000478859.1:n.259-167C>T
NM_015506.2:c.430-167C>T NP_056321.2:n.430-167C>T
XM_005270724.3:c.235-167C>T XP_005270781.1:n.235-167C>T
XM_011541204.1:c.259-167C>T XP_011539506.1:n.259-167C>T
NM_001330540.1:c.259-167C>T NP_001317469.1:n.259-167C>T
XM_005270724.5:c.235-167C>T XP_005270781.1:n.235-167C>T
NM_015506.3:c.430-167C>T MANE Select NP_056321.2:n.430-167C>T
NM_001330540.2:c.259-167C>T NP_001317469.1:n.259-167C>T
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