Canonical Allele Identifier: CA2473783257

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507998C= , CM000663.2:g.45507998C=	GRCh38
NC_000001.10:g.45973670C= , CM000663.1:g.45973670C=	GRCh37
NC_000001.9:g.45746257C=	NCBI36
NG_013378.1:g.12815C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-214C= MANE Select	ENSP00000383840.4:n.277-214C=
ENST00000401061.8:c.277-214C=	ENSP00000383840.4:n.277-214C=
ENST00000616135.1:c.106-214C=	ENSP00000478859.1:n.106-214C=
NM_015506.2:c.277-214C=	NP_056321.2:n.277-214C=
XM_005270724.3:c.82-214C=	XP_005270781.1:n.82-214C=
XM_011541204.1:c.106-214C=	XP_011539506.1:n.106-214C=
NM_001330540.1:c.106-214C=	NP_001317469.1:n.106-214C=
XM_005270724.5:c.82-214C=	XP_005270781.1:n.82-214C=
NM_015506.3:c.277-214C= MANE Select	NP_056321.2:n.277-214C=
NM_001330540.2:c.106-214C=	NP_001317469.1:n.106-214C=