Canonical Allele Identifier: CA2473780191
Gene: MMACHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500377G= , CM000663.2:g.45500377G= GRCh38
NC_000001.10:g.45966049G= , CM000663.1:g.45966049G= GRCh37
NC_000001.9:g.45738636G= NCBI36
NG_013378.1:g.5194G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.45G= MANE Select ENSP00000383840.4:p.Thr15=
ENST00000401061.8:c.45G= ENSP00000383840.4:p.Thr15=
ENST00000616135.1:c.-127G= ENSP00000478859.1:n.-127G=
NM_015506.2:c.45G= NP_056321.2:p.Thr15=
XM_005270724.3:c.45G= XP_005270781.1:p.Thr15=
XM_011541204.1:c.-178G= XP_011539506.1:n.-178G=
NM_001330540.1:c.-178G= NP_001317469.1:n.-178G=
XM_005270724.5:c.45G= XP_005270781.1:p.Thr15=
NM_015506.3:c.45G= MANE Select NP_056321.2:p.Thr15=
NM_001330540.2:c.-178G= NP_001317469.1:n.-178G=