Canonical Allele Identifier: CA827818

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509007G>A , CM000663.2:g.45509007G>A	GRCh38
NC_000001.10:g.45974679G>A , CM000663.1:g.45974679G>A	GRCh37
NC_000001.9:g.45747266G>A	NCBI36
NG_013378.1:g.13824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.641G>A MANE Select	ENSP00000383840.4:p.Arg214His
ENST00000401061.8:c.641G>A	ENSP00000383840.4:p.Arg214His
ENST00000616135.1:c.470G>A	ENSP00000478859.1:p.Arg157His
NM_015506.2:c.641G>A	NP_056321.2:p.Arg214His
XM_005270724.3:c.446G>A	XP_005270781.1:p.Arg149His
XM_011541204.1:c.470G>A	XP_011539506.1:p.Arg157His
NM_001330540.1:c.470G>A	NP_001317469.1:p.Arg157His
XM_005270724.5:c.446G>A	XP_005270781.1:p.Arg149His
NM_015506.3:c.641G>A MANE Select	NP_056321.2:p.Arg214His
NM_001330540.2:c.470G>A	NP_001317469.1:p.Arg157His