Canonical Allele Identifier: CA2473780213

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500430T= , CM000663.2:g.45500430T=	GRCh38
NC_000001.10:g.45966102T= , CM000663.1:g.45966102T=	GRCh37
NC_000001.9:g.45738689T=	NCBI36
NG_013378.1:g.5247T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+17T= MANE Select	ENSP00000383840.4:n.81+17T=
ENST00000401061.8:c.81+17T=	ENSP00000383840.4:n.81+17T=
ENST00000616135.1:c.-91+17T=	ENSP00000478859.1:n.-91+17T=
NM_015506.2:c.81+17T=	NP_056321.2:n.81+17T=
XM_005270724.3:c.81+17T=	XP_005270781.1:n.81+17T=
XM_011541204.1:c.-142+17T=	XP_011539506.1:n.-142+17T=
NM_001330540.1:c.-142+17T=	NP_001317469.1:n.-142+17T=
XM_005270724.5:c.81+17T=	XP_005270781.1:n.81+17T=
NM_015506.3:c.81+17T= MANE Select	NP_056321.2:n.81+17T=
NM_001330540.2:c.-142+17T=	NP_001317469.1:n.-142+17T=