Canonical Allele Identifier: CA2574352192
Gene: MMACHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500429C>A , CM000663.2:g.45500429C>A GRCh38
NC_000001.10:g.45966101C>A , CM000663.1:g.45966101C>A GRCh37
NC_000001.9:g.45738688C>A NCBI36
NG_013378.1:g.5246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.81+16C>A MANE Select ENSP00000383840.4:n.81+16C>A
ENST00000401061.8:c.81+16C>A ENSP00000383840.4:n.81+16C>A
ENST00000616135.1:c.-91+16C>A ENSP00000478859.1:n.-91+16C>A
NM_015506.2:c.81+16C>A NP_056321.2:n.81+16C>A
XM_005270724.3:c.81+16C>A XP_005270781.1:n.81+16C>A
XM_011541204.1:c.-142+16C>A XP_011539506.1:n.-142+16C>A
NM_001330540.1:c.-142+16C>A NP_001317469.1:n.-142+16C>A
XM_005270724.5:c.81+16C>A XP_005270781.1:n.81+16C>A
NM_015506.3:c.81+16C>A MANE Select NP_056321.2:n.81+16C>A
NM_001330540.2:c.-142+16C>A NP_001317469.1:n.-142+16C>A