Canonical Allele Identifier: CA1144232803

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507545A= , CM000663.2:g.45507545A=	GRCh38
NC_000001.10:g.45973217A= , CM000663.1:g.45973217A=	GRCh37
NC_000001.9:g.45745804A=	NCBI36
NG_013378.1:g.12362A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.271A= MANE Select	ENSP00000383840.4:p.Arg91=
ENST00000401061.8:c.271A=	ENSP00000383840.4:p.Arg91=
ENST00000616135.1:c.100A=	ENSP00000478859.1:p.Arg34=
NM_015506.2:c.271A=	NP_056321.2:p.Arg91=
XM_005270724.3:c.82-667A=	XP_005270781.1:n.82-667A=
XM_011541204.1:c.100A=	XP_011539506.1:p.Arg34=
NM_001330540.1:c.100A=	NP_001317469.1:p.Arg34=
XM_005270724.5:c.82-667A=	XP_005270781.1:n.82-667A=
NM_015506.3:c.271A= MANE Select	NP_056321.2:p.Arg91=
NM_001330540.2:c.100A=	NP_001317469.1:p.Arg34=