Canonical Allele Identifier: CA2473780183

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500362G= , CM000663.2:g.45500362G=	GRCh38
NC_000001.10:g.45966034G= , CM000663.1:g.45966034G=	GRCh37
NC_000001.9:g.45738621G=	NCBI36
NG_013378.1:g.5179G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.30G= MANE Select	ENSP00000383840.4:p.Gln10=
ENST00000401061.8:c.30G=	ENSP00000383840.4:p.Gln10=
ENST00000616135.1:c.-142G=	ENSP00000478859.1:n.-142G=
NM_015506.2:c.30G=	NP_056321.2:p.Gln10=
XM_005270724.3:c.30G=	XP_005270781.1:p.Gln10=
XM_011541204.1:c.-193G=	XP_011539506.1:n.-193G=
NM_001330540.1:c.-193G=	NP_001317469.1:n.-193G=
XM_005270724.5:c.30G=	XP_005270781.1:p.Gln10=
NM_015506.3:c.30G= MANE Select	NP_056321.2:p.Gln10=
NM_001330540.2:c.-193G=	NP_001317469.1:n.-193G=