Canonical Allele Identifier: CA2473783742

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508966G= , CM000663.2:g.45508966G=	GRCh38
NC_000001.10:g.45974638G= , CM000663.1:g.45974638G=	GRCh37
NC_000001.9:g.45747225G=	NCBI36
NG_013378.1:g.13783G=

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.600G= MANE Select	NP_056321.2:p.Trp200=
ENST00000401061.9:c.600G= MANE Select	ENSP00000383840.4:p.Trp200=
NM_001330540.1:c.429G=	NP_001317469.1:p.Trp143=
NM_001330540.2:c.429G=	NP_001317469.1:p.Trp143=
NM_015506.2:c.600G=	NP_056321.2:p.Trp200=
ENST00000401061.8:c.600G=	ENSP00000383840.4:p.Trp200=
ENST00000616135.1:c.429G=	ENSP00000478859.1:p.Trp143=
XM_005270724.3:c.405G=	XP_005270781.1:p.Trp135=
XM_005270724.5:c.405G=	XP_005270781.1:p.Trp135=
XM_011541204.1:c.429G=	XP_011539506.1:p.Trp143=