Canonical Allele Identifier: CA827838

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509065A>G , CM000663.2:g.45509065A>G	GRCh38
NC_000001.10:g.45974737A>G , CM000663.1:g.45974737A>G	GRCh37
NC_000001.9:g.45747324A>G	NCBI36
NG_013378.1:g.13882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.699A>G MANE Select	ENSP00000383840.4:p.Leu233=
ENST00000401061.8:c.699A>G	ENSP00000383840.4:p.Leu233=
ENST00000616135.1:c.528A>G	ENSP00000478859.1:p.Leu176=
NM_015506.2:c.699A>G	NP_056321.2:p.Leu233=
XM_005270724.3:c.504A>G	XP_005270781.1:p.Leu168=
XM_011541204.1:c.528A>G	XP_011539506.1:p.Leu176=
NM_001330540.1:c.528A>G	NP_001317469.1:p.Leu176=
XM_005270724.5:c.504A>G	XP_005270781.1:p.Leu168=
NM_015506.3:c.699A>G MANE Select	NP_056321.2:p.Leu233=
NM_001330540.2:c.528A>G	NP_001317469.1:p.Leu176=