Canonical Allele Identifier: CA2473783720

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508940C= , CM000663.2:g.45508940C=	GRCh38
NC_000001.10:g.45974612C= , CM000663.1:g.45974612C=	GRCh37
NC_000001.9:g.45747199C=	NCBI36
NG_013378.1:g.13757C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.574C= MANE Select	ENSP00000383840.4:p.Leu192=
ENST00000401061.8:c.574C=	ENSP00000383840.4:p.Leu192=
ENST00000616135.1:c.403C=	ENSP00000478859.1:p.Leu135=
NM_015506.2:c.574C=	NP_056321.2:p.Leu192=
XM_005270724.3:c.379C=	XP_005270781.1:p.Leu127=
XM_011541204.1:c.403C=	XP_011539506.1:p.Leu135=
NM_001330540.1:c.403C=	NP_001317469.1:p.Leu135=
XM_005270724.5:c.379C=	XP_005270781.1:p.Leu127=
NM_015506.3:c.574C= MANE Select	NP_056321.2:p.Leu192=
NM_001330540.2:c.403C=	NP_001317469.1:p.Leu135=