Canonical Allele Identifier: CA340133721
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508989C>A , CM000663.2:g.45508989C>A GRCh38
NC_000001.10:g.45974661C>A , CM000663.1:g.45974661C>A GRCh37
NC_000001.9:g.45747248C>A NCBI36
NG_013378.1:g.13806C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.623C>A MANE Select ENSP00000383840.4:p.Ala208Asp
ENST00000401061.8:c.623C>A ENSP00000383840.4:p.Ala208Asp
ENST00000616135.1:c.452C>A ENSP00000478859.1:p.Ala151Asp
NM_015506.2:c.623C>A NP_056321.2:p.Ala208Asp
XM_005270724.3:c.428C>A XP_005270781.1:p.Ala143Asp
XM_011541204.1:c.452C>A XP_011539506.1:p.Ala151Asp
NM_001330540.1:c.452C>A NP_001317469.1:p.Ala151Asp
XM_005270724.5:c.428C>A XP_005270781.1:p.Ala143Asp
NM_015506.3:c.623C>A MANE Select NP_056321.2:p.Ala208Asp
NM_001330540.2:c.452C>A NP_001317469.1:p.Ala151Asp