Canonical Allele Identifier: CA2473780297

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500634G= , CM000663.2:g.45500634G=	GRCh38
NC_000001.10:g.45966306G= , CM000663.1:g.45966306G=	GRCh37
NC_000001.9:g.45738893G=	NCBI36
NG_013378.1:g.5451G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+221G= MANE Select	ENSP00000383840.4:n.81+221G=
ENST00000401061.8:c.81+221G=	ENSP00000383840.4:n.81+221G=
ENST00000616135.1:c.-91+221G=	ENSP00000478859.1:n.-91+221G=
NM_015506.2:c.81+221G=	NP_056321.2:n.81+221G=
XM_005270724.3:c.81+221G=	XP_005270781.1:n.81+221G=
XM_011541204.1:c.-142+221G=	XP_011539506.1:n.-142+221G=
NM_001330540.1:c.-142+221G=	NP_001317469.1:n.-142+221G=
XM_005270724.5:c.81+221G=	XP_005270781.1:n.81+221G=
NM_015506.3:c.81+221G= MANE Select	NP_056321.2:n.81+221G=
NM_001330540.2:c.-142+221G=	NP_001317469.1:n.-142+221G=