Canonical Allele Identifier: CA827621

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500414G>A , CM000663.2:g.45500414G>A	GRCh38
NC_000001.10:g.45966086G>A , CM000663.1:g.45966086G>A	GRCh37
NC_000001.9:g.45738673G>A	NCBI36
NG_013378.1:g.5231G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.81+1G>A MANE Select	NP_056321.2:n.81+1G>A
ENST00000401061.9:c.81+1G>A MANE Select	ENSP00000383840.4:n.81+1G>A
NM_001330540.1:c.-142+1G>A	NP_001317469.1:n.-142+1G>A
NM_001330540.2:c.-142+1G>A	NP_001317469.1:n.-142+1G>A
NM_015506.2:c.81+1G>A	NP_056321.2:n.81+1G>A
ENST00000401061.8:c.81+1G>A	ENSP00000383840.4:n.81+1G>A
ENST00000616135.1:c.-91+1G>A	ENSP00000478859.1:n.-91+1G>A
XM_005270724.3:c.81+1G>A	XP_005270781.1:n.81+1G>A
XM_005270724.5:c.81+1G>A	XP_005270781.1:n.81+1G>A
XM_011541204.1:c.-142+1G>A	XP_011539506.1:n.-142+1G>A