Canonical Allele Identifier: CA340131497
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507416C>A , CM000663.2:g.45507416C>A GRCh38
NC_000001.10:g.45973088C>A , CM000663.1:g.45973088C>A GRCh37
NC_000001.9:g.45745675C>A NCBI36
NG_013378.1:g.12233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.142C>A MANE Select ENSP00000383840.4:p.Leu48Met
ENST00000401061.8:c.142C>A ENSP00000383840.4:p.Leu48Met
ENST00000616135.1:c.-30C>A ENSP00000478859.1:n.-30C>A
NM_015506.2:c.142C>A NP_056321.2:p.Leu48Met
XM_005270724.3:c.82-796C>A XP_005270781.1:n.82-796C>A
XM_011541204.1:c.-30C>A XP_011539506.1:n.-30C>A
NM_001330540.1:c.-30C>A NP_001317469.1:n.-30C>A
XM_005270724.5:c.82-796C>A XP_005270781.1:n.82-796C>A
NM_015506.3:c.142C>A MANE Select NP_056321.2:p.Leu48Met
NM_001330540.2:c.-30C>A NP_001317469.1:n.-30C>A