Canonical Allele Identifier: CA2473783556
Gene: MMACHC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508621C= , CM000663.2:g.45508621C= GRCh38
NC_000001.10:g.45974293C= , CM000663.1:g.45974293C= GRCh37
NC_000001.9:g.45746880C= NCBI36
NG_013378.1:g.13438C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.430-175C= MANE Select ENSP00000383840.4:n.430-175C=
ENST00000401061.8:c.430-175C= ENSP00000383840.4:n.430-175C=
ENST00000616135.1:c.259-175C= ENSP00000478859.1:n.259-175C=
NM_015506.2:c.430-175C= NP_056321.2:n.430-175C=
XM_005270724.3:c.235-175C= XP_005270781.1:n.235-175C=
XM_011541204.1:c.259-175C= XP_011539506.1:n.259-175C=
NM_001330540.1:c.259-175C= NP_001317469.1:n.259-175C=
XM_005270724.5:c.235-175C= XP_005270781.1:n.235-175C=
NM_015506.3:c.430-175C= MANE Select NP_056321.2:n.430-175C=
NM_001330540.2:c.259-175C= NP_001317469.1:n.259-175C=
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