Canonical Allele Identifier: CA1145055217

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508982C= , CM000663.2:g.45508982C=	GRCh38
NC_000001.10:g.45974654C= , CM000663.1:g.45974654C=	GRCh37
NC_000001.9:g.45747241C=	NCBI36
NG_013378.1:g.13799C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.616C= MANE Select	ENSP00000383840.4:p.Arg206=
ENST00000401061.8:c.616C=	ENSP00000383840.4:p.Arg206=
ENST00000616135.1:c.445C=	ENSP00000478859.1:p.Arg149=
NM_015506.2:c.616C=	NP_056321.2:p.Arg206=
XM_005270724.3:c.421C=	XP_005270781.1:p.Arg141=
XM_011541204.1:c.445C=	XP_011539506.1:p.Arg149=
NM_001330540.1:c.445C=	NP_001317469.1:p.Arg149=
XM_005270724.5:c.421C=	XP_005270781.1:p.Arg141=
NM_015506.3:c.616C= MANE Select	NP_056321.2:p.Arg206=
NM_001330540.2:c.445C=	NP_001317469.1:p.Arg149=