Canonical Allele Identifier: CA1143474430

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508838T= , CM000663.2:g.45508838T=	GRCh38
NC_000001.10:g.45974510T= , CM000663.1:g.45974510T=	GRCh37
NC_000001.9:g.45747097T=	NCBI36
NG_013378.1:g.13655T=

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.472T= MANE Select	NP_056321.2:p.Phe158=
ENST00000401061.9:c.472T= MANE Select	ENSP00000383840.4:p.Phe158=
NM_001330540.1:c.301T=	NP_001317469.1:p.Phe101=
NM_001330540.2:c.301T=	NP_001317469.1:p.Phe101=
NM_015506.2:c.472T=	NP_056321.2:p.Phe158=
ENST00000401061.8:c.472T=	ENSP00000383840.4:p.Phe158=
ENST00000616135.1:c.301T=	ENSP00000478859.1:p.Phe101=
XM_005270724.3:c.277T=	XP_005270781.1:p.Phe93=
XM_005270724.5:c.277T=	XP_005270781.1:p.Phe93=
XM_011541204.1:c.301T=	XP_011539506.1:p.Phe101=