Canonical Allele Identifier: CA2473780187

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500370A= , CM000663.2:g.45500370A=	GRCh38
NC_000001.10:g.45966042A= , CM000663.1:g.45966042A=	GRCh37
NC_000001.9:g.45738629A=	NCBI36
NG_013378.1:g.5187A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.38A= MANE Select	ENSP00000383840.4:p.Glu13=
ENST00000401061.8:c.38A=	ENSP00000383840.4:p.Glu13=
ENST00000616135.1:c.-134A=	ENSP00000478859.1:n.-134A=
NM_015506.2:c.38A=	NP_056321.2:p.Glu13=
XM_005270724.3:c.38A=	XP_005270781.1:p.Glu13=
XM_011541204.1:c.-185A=	XP_011539506.1:n.-185A=
NM_001330540.1:c.-185A=	NP_001317469.1:n.-185A=
XM_005270724.5:c.38A=	XP_005270781.1:p.Glu13=
NM_015506.3:c.38A= MANE Select	NP_056321.2:p.Glu13=
NM_001330540.2:c.-185A=	NP_001317469.1:n.-185A=