Canonical Allele Identifier: CA2473780165

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500303C= , CM000663.2:g.45500303C=	GRCh38
NC_000001.10:g.45965975C= , CM000663.1:g.45965975C=	GRCh37
NC_000001.9:g.45738562C=	NCBI36
NG_013378.1:g.5120C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.-30C= MANE Select	ENSP00000383840.4:n.-30C=
ENST00000401061.8:c.-30C=	ENSP00000383840.4:n.-30C=
NM_015506.2:c.-30C=	NP_056321.2:n.-30C=
NM_001330540.1:c.-252C=	NP_001317469.1:n.-252C=
XM_005270724.5:c.-30C=	XP_005270781.1:n.-30C=
NM_015506.3:c.-30C= MANE Select	NP_056321.2:n.-30C=
NM_001330540.2:c.-252C=	NP_001317469.1:n.-252C=