Canonical Allele Identifier: CA2473780217

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500436T= , CM000663.2:g.45500436T=	GRCh38
NC_000001.10:g.45966108T= , CM000663.1:g.45966108T=	GRCh37
NC_000001.9:g.45738695T=	NCBI36
NG_013378.1:g.5253T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+23T= MANE Select	ENSP00000383840.4:n.81+23T=
ENST00000401061.8:c.81+23T=	ENSP00000383840.4:n.81+23T=
ENST00000616135.1:c.-91+23T=	ENSP00000478859.1:n.-91+23T=
NM_015506.2:c.81+23T=	NP_056321.2:n.81+23T=
XM_005270724.3:c.81+23T=	XP_005270781.1:n.81+23T=
XM_011541204.1:c.-142+23T=	XP_011539506.1:n.-142+23T=
NM_001330540.1:c.-142+23T=	NP_001317469.1:n.-142+23T=
XM_005270724.5:c.81+23T=	XP_005270781.1:n.81+23T=
NM_015506.3:c.81+23T= MANE Select	NP_056321.2:n.81+23T=
NM_001330540.2:c.-142+23T=	NP_001317469.1:n.-142+23T=