Canonical Allele Identifier: CA2473783067

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507501C= , CM000663.2:g.45507501C=	GRCh38
NC_000001.10:g.45973173C= , CM000663.1:g.45973173C=	GRCh37
NC_000001.9:g.45745760C=	NCBI36
NG_013378.1:g.12318C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.227C= MANE Select	ENSP00000383840.4:p.Thr76=
ENST00000401061.8:c.227C=	ENSP00000383840.4:p.Thr76=
ENST00000616135.1:c.56C=	ENSP00000478859.1:p.Thr19=
NM_015506.2:c.227C=	NP_056321.2:p.Thr76=
XM_005270724.3:c.82-711C=	XP_005270781.1:n.82-711C=
XM_011541204.1:c.56C=	XP_011539506.1:p.Thr19=
NM_001330540.1:c.56C=	NP_001317469.1:p.Thr19=
XM_005270724.5:c.82-711C=	XP_005270781.1:n.82-711C=
NM_015506.3:c.227C= MANE Select	NP_056321.2:p.Thr76=
NM_001330540.2:c.56C=	NP_001317469.1:p.Thr19=