Canonical Allele Identifier: CA2473780184
Gene: MMACHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500365G= , CM000663.2:g.45500365G= GRCh38
NC_000001.10:g.45966037G= , CM000663.1:g.45966037G= GRCh37
NC_000001.9:g.45738624G= NCBI36
NG_013378.1:g.5182G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.33G= MANE Select ENSP00000383840.4:p.Lys11=
ENST00000401061.8:c.33G= ENSP00000383840.4:p.Lys11=
ENST00000616135.1:c.-139G= ENSP00000478859.1:n.-139G=
NM_015506.2:c.33G= NP_056321.2:p.Lys11=
XM_005270724.3:c.33G= XP_005270781.1:p.Lys11=
XM_011541204.1:c.-190G= XP_011539506.1:n.-190G=
NM_001330540.1:c.-190G= NP_001317469.1:n.-190G=
XM_005270724.5:c.33G= XP_005270781.1:p.Lys11=
NM_015506.3:c.33G= MANE Select NP_056321.2:p.Lys11=
NM_001330540.2:c.-190G= NP_001317469.1:n.-190G=