Canonical Allele Identifier: CA2473783420

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508371G= , CM000663.2:g.45508371G=	GRCh38
NC_000001.10:g.45974043G= , CM000663.1:g.45974043G=	GRCh37
NC_000001.9:g.45746630G=	NCBI36
NG_013378.1:g.13188G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+7G= MANE Select	ENSP00000383840.4:n.429+7G=
ENST00000401061.8:c.429+7G=	ENSP00000383840.4:n.429+7G=
ENST00000616135.1:c.258+7G=	ENSP00000478859.1:n.258+7G=
NM_015506.2:c.429+7G=	NP_056321.2:n.429+7G=
XM_005270724.3:c.234+7G=	XP_005270781.1:n.234+7G=
XM_011541204.1:c.258+7G=	XP_011539506.1:n.258+7G=
NM_001330540.1:c.258+7G=	NP_001317469.1:n.258+7G=
XM_005270724.5:c.234+7G=	XP_005270781.1:n.234+7G=
NM_015506.3:c.429+7G= MANE Select	NP_056321.2:n.429+7G=
NM_001330540.2:c.258+7G=	NP_001317469.1:n.258+7G=