Canonical Allele Identifier: CA2473783585
Gene: MMACHC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508670A= , CM000663.2:g.45508670A= GRCh38
NC_000001.10:g.45974342A= , CM000663.1:g.45974342A= GRCh37
NC_000001.9:g.45746929A= NCBI36
NG_013378.1:g.13487A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.430-126A= MANE Select ENSP00000383840.4:n.430-126A=
ENST00000401061.8:c.430-126A= ENSP00000383840.4:n.430-126A=
ENST00000616135.1:c.259-126A= ENSP00000478859.1:n.259-126A=
NM_015506.2:c.430-126A= NP_056321.2:n.430-126A=
XM_005270724.3:c.235-126A= XP_005270781.1:n.235-126A=
XM_011541204.1:c.259-126A= XP_011539506.1:n.259-126A=
NM_001330540.1:c.259-126A= NP_001317469.1:n.259-126A=
XM_005270724.5:c.235-126A= XP_005270781.1:n.235-126A=
NM_015506.3:c.430-126A= MANE Select NP_056321.2:n.430-126A=
NM_001330540.2:c.259-126A= NP_001317469.1:n.259-126A=
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