Canonical Allele Identifier: CA2473783279
Gene: MMACHC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508052C= , CM000663.2:g.45508052C= GRCh38
NC_000001.10:g.45973724C= , CM000663.1:g.45973724C= GRCh37
NC_000001.9:g.45746311C= NCBI36
NG_013378.1:g.12869C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.277-160C= MANE Select ENSP00000383840.4:n.277-160C=
ENST00000401061.8:c.277-160C= ENSP00000383840.4:n.277-160C=
ENST00000616135.1:c.106-160C= ENSP00000478859.1:n.106-160C=
NM_015506.2:c.277-160C= NP_056321.2:n.277-160C=
XM_005270724.3:c.82-160C= XP_005270781.1:n.82-160C=
XM_011541204.1:c.106-160C= XP_011539506.1:n.106-160C=
NM_001330540.1:c.106-160C= NP_001317469.1:n.106-160C=
XM_005270724.5:c.82-160C= XP_005270781.1:n.82-160C=
NM_015506.3:c.277-160C= MANE Select NP_056321.2:n.277-160C=
NM_001330540.2:c.106-160C= NP_001317469.1:n.106-160C=
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