Canonical Allele Identifier: CA340128610
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500382G>T , CM000663.2:g.45500382G>T GRCh38
NC_000001.10:g.45966054G>T , CM000663.1:g.45966054G>T GRCh37
NC_000001.9:g.45738641G>T NCBI36
NG_013378.1:g.5199G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.50G>T MANE Select ENSP00000383840.4:p.Cys17Phe
ENST00000401061.8:c.50G>T ENSP00000383840.4:p.Cys17Phe
ENST00000616135.1:c.-122G>T ENSP00000478859.1:n.-122G>T
NM_015506.2:c.50G>T NP_056321.2:p.Cys17Phe
XM_005270724.3:c.50G>T XP_005270781.1:p.Cys17Phe
XM_011541204.1:c.-173G>T XP_011539506.1:n.-173G>T
NM_001330540.1:c.-173G>T NP_001317469.1:n.-173G>T
XM_005270724.5:c.50G>T XP_005270781.1:p.Cys17Phe
NM_015506.3:c.50G>T MANE Select NP_056321.2:p.Cys17Phe
NM_001330540.2:c.-173G>T NP_001317469.1:n.-173G>T