Canonical Allele Identifier: CA2574352162

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500285T>C , CM000663.2:g.45500285T>C	GRCh38
NC_000001.10:g.45965957T>C , CM000663.1:g.45965957T>C	GRCh37
NC_000001.9:g.45738544T>C	NCBI36
NG_013378.1:g.5102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.8:c.-48T>C	ENSP00000383840.4:n.-48T>C
NM_015506.2:c.-48T>C	NP_056321.2:n.-48T>C
NM_001330540.1:c.-270T>C	NP_001317469.1:n.-270T>C
XM_005270724.5:c.-48T>C	XP_005270781.1:n.-48T>C