Canonical Allele Identifier: CA2574352171

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500316A>C , CM000663.2:g.45500316A>C	GRCh38
NC_000001.10:g.45965988A>C , CM000663.1:g.45965988A>C	GRCh37
NC_000001.9:g.45738575A>C	NCBI36
NG_013378.1:g.5133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.-17A>C MANE Select	ENSP00000383840.4:n.-17A>C
ENST00000401061.8:c.-17A>C	ENSP00000383840.4:n.-17A>C
NM_015506.2:c.-17A>C	NP_056321.2:n.-17A>C
XM_005270724.3:c.-17A>C	XP_005270781.1:n.-17A>C
NM_001330540.1:c.-239A>C	NP_001317469.1:n.-239A>C
XM_005270724.5:c.-17A>C	XP_005270781.1:n.-17A>C
NM_015506.3:c.-17A>C MANE Select	NP_056321.2:n.-17A>C
NM_001330540.2:c.-239A>C	NP_001317469.1:n.-239A>C