Canonical Allele Identifier: CA2473780203

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500404C= , CM000663.2:g.45500404C=	GRCh38
NC_000001.10:g.45966076C= , CM000663.1:g.45966076C=	GRCh37
NC_000001.9:g.45738663C=	NCBI36
NG_013378.1:g.5221C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.72C= MANE Select	ENSP00000383840.4:p.Tyr24=
ENST00000401061.8:c.72C=	ENSP00000383840.4:p.Tyr24=
ENST00000616135.1:c.-100C=	ENSP00000478859.1:n.-100C=
NM_015506.2:c.72C=	NP_056321.2:p.Tyr24=
XM_005270724.3:c.72C=	XP_005270781.1:p.Tyr24=
XM_011541204.1:c.-151C=	XP_011539506.1:n.-151C=
NM_001330540.1:c.-151C=	NP_001317469.1:n.-151C=
XM_005270724.5:c.72C=	XP_005270781.1:p.Tyr24=
NM_015506.3:c.72C= MANE Select	NP_056321.2:p.Tyr24=
NM_001330540.2:c.-151C=	NP_001317469.1:n.-151C=