Canonical Allele Identifier: CA1149042783

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500364A= , CM000663.2:g.45500364A=	GRCh38
NC_000001.10:g.45966036A= , CM000663.1:g.45966036A=	GRCh37
NC_000001.9:g.45738623A=	NCBI36
NG_013378.1:g.5181A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.32A= MANE Select	ENSP00000383840.4:p.Lys11=
ENST00000401061.8:c.32A=	ENSP00000383840.4:p.Lys11=
ENST00000616135.1:c.-140A=	ENSP00000478859.1:n.-140A=
NM_015506.2:c.32A=	NP_056321.2:p.Lys11=
XM_005270724.3:c.32A=	XP_005270781.1:p.Lys11=
XM_011541204.1:c.-191A=	XP_011539506.1:n.-191A=
NM_001330540.1:c.-191A=	NP_001317469.1:n.-191A=
XM_005270724.5:c.32A=	XP_005270781.1:p.Lys11=
NM_015506.3:c.32A= MANE Select	NP_056321.2:p.Lys11=
NM_001330540.2:c.-191A=	NP_001317469.1:n.-191A=