Canonical Allele Identifier: CA2473783753

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508987T= , CM000663.2:g.45508987T=	GRCh38
NC_000001.10:g.45974659T= , CM000663.1:g.45974659T=	GRCh37
NC_000001.9:g.45747246T=	NCBI36
NG_013378.1:g.13804T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.621T= MANE Select	ENSP00000383840.4:p.Asp207=
ENST00000401061.8:c.621T=	ENSP00000383840.4:p.Asp207=
ENST00000616135.1:c.450T=	ENSP00000478859.1:p.Asp150=
NM_015506.2:c.621T=	NP_056321.2:p.Asp207=
XM_005270724.3:c.426T=	XP_005270781.1:p.Asp142=
XM_011541204.1:c.450T=	XP_011539506.1:p.Asp150=
NM_001330540.1:c.450T=	NP_001317469.1:p.Asp150=
XM_005270724.5:c.426T=	XP_005270781.1:p.Asp142=
NM_015506.3:c.621T= MANE Select	NP_056321.2:p.Asp207=
NM_001330540.2:c.450T=	NP_001317469.1:p.Asp150=