Canonical Allele Identifier: CA2473783031

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507413A= , CM000663.2:g.45507413A=	GRCh38
NC_000001.10:g.45973085A= , CM000663.1:g.45973085A=	GRCh37
NC_000001.9:g.45745672A=	NCBI36
NG_013378.1:g.12230A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.139A= MANE Select	ENSP00000383840.4:p.Thr47=
ENST00000401061.8:c.139A=	ENSP00000383840.4:p.Thr47=
ENST00000616135.1:c.-33A=	ENSP00000478859.1:n.-33A=
NM_015506.2:c.139A=	NP_056321.2:p.Thr47=
XM_005270724.3:c.82-799A=	XP_005270781.1:n.82-799A=
XM_011541204.1:c.-33A=	XP_011539506.1:n.-33A=
NM_001330540.1:c.-33A=	NP_001317469.1:n.-33A=
XM_005270724.5:c.82-799A=	XP_005270781.1:n.82-799A=
NM_015506.3:c.139A= MANE Select	NP_056321.2:p.Thr47=
NM_001330540.2:c.-33A=	NP_001317469.1:n.-33A=