Canonical Allele Identifier: CA2473780200
Gene: MMACHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500388T= , CM000663.2:g.45500388T= GRCh38
NC_000001.10:g.45966060T= , CM000663.1:g.45966060T= GRCh37
NC_000001.9:g.45738647T= NCBI36
NG_013378.1:g.5205T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.56T= MANE Select ENSP00000383840.4:p.Phe19=
ENST00000401061.8:c.56T= ENSP00000383840.4:p.Phe19=
ENST00000616135.1:c.-116T= ENSP00000478859.1:n.-116T=
NM_015506.2:c.56T= NP_056321.2:p.Phe19=
XM_005270724.3:c.56T= XP_005270781.1:p.Phe19=
XM_011541204.1:c.-167T= XP_011539506.1:n.-167T=
NM_001330540.1:c.-167T= NP_001317469.1:n.-167T=
XM_005270724.5:c.56T= XP_005270781.1:p.Phe19=
NM_015506.3:c.56T= MANE Select NP_056321.2:p.Phe19=
NM_001330540.2:c.-167T= NP_001317469.1:n.-167T=