Canonical Allele Identifier: CA2473780185

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500366A= , CM000663.2:g.45500366A=	GRCh38
NC_000001.10:g.45966038A= , CM000663.1:g.45966038A=	GRCh37
NC_000001.9:g.45738625A=	NCBI36
NG_013378.1:g.5183A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.34A= MANE Select	ENSP00000383840.4:p.Ile12=
ENST00000401061.8:c.34A=	ENSP00000383840.4:p.Ile12=
ENST00000616135.1:c.-138A=	ENSP00000478859.1:n.-138A=
NM_015506.2:c.34A=	NP_056321.2:p.Ile12=
XM_005270724.3:c.34A=	XP_005270781.1:p.Ile12=
XM_011541204.1:c.-189A=	XP_011539506.1:n.-189A=
NM_001330540.1:c.-189A=	NP_001317469.1:n.-189A=
XM_005270724.5:c.34A=	XP_005270781.1:p.Ile12=
NM_015506.3:c.34A= MANE Select	NP_056321.2:p.Ile12=
NM_001330540.2:c.-189A=	NP_001317469.1:n.-189A=