Canonical Allele Identifier: CA340131453
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507405C>T , CM000663.2:g.45507405C>T GRCh38
NC_000001.10:g.45973077C>T , CM000663.1:g.45973077C>T GRCh37
NC_000001.9:g.45745664C>T NCBI36
NG_013378.1:g.12222C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.131C>T MANE Select ENSP00000383840.4:p.Pro44Leu
ENST00000401061.8:c.131C>T ENSP00000383840.4:p.Pro44Leu
ENST00000616135.1:c.-41C>T ENSP00000478859.1:n.-41C>T
NM_015506.2:c.131C>T NP_056321.2:p.Pro44Leu
XM_005270724.3:c.82-807C>T XP_005270781.1:n.82-807C>T
XM_011541204.1:c.-41C>T XP_011539506.1:n.-41C>T
NM_001330540.1:c.-41C>T NP_001317469.1:n.-41C>T
XM_005270724.5:c.82-807C>T XP_005270781.1:n.82-807C>T
NM_015506.3:c.131C>T MANE Select NP_056321.2:p.Pro44Leu
NM_001330540.2:c.-41C>T NP_001317469.1:n.-41C>T