Canonical Allele Identifier: CA827866

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509166G>A , CM000663.2:g.45509166G>A	GRCh38
NC_000001.10:g.45974838G>A , CM000663.1:g.45974838G>A	GRCh37
NC_000001.9:g.45747425G>A	NCBI36
NG_013378.1:g.13983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.800G>A MANE Select	ENSP00000383840.4:p.Arg267Gln
ENST00000401061.8:c.800G>A	ENSP00000383840.4:p.Arg267Gln
ENST00000616135.1:c.629G>A	ENSP00000478859.1:p.Arg210Gln
NM_015506.2:c.800G>A	NP_056321.2:p.Arg267Gln
XM_005270724.3:c.605G>A	XP_005270781.1:p.Arg202Gln
XM_011541204.1:c.629G>A	XP_011539506.1:p.Arg210Gln
NM_001330540.1:c.629G>A	NP_001317469.1:p.Arg210Gln
XM_005270724.5:c.605G>A	XP_005270781.1:p.Arg202Gln
NM_015506.3:c.800G>A MANE Select	NP_056321.2:p.Arg267Gln
NM_001330540.2:c.629G>A	NP_001317469.1:p.Arg210Gln