Canonical Allele Identifier: CA1143448906

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507414C= , CM000663.2:g.45507414C=	GRCh38
NC_000001.10:g.45973086C= , CM000663.1:g.45973086C=	GRCh37
NC_000001.9:g.45745673C=	NCBI36
NG_013378.1:g.12231C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.140C= MANE Select	ENSP00000383840.4:p.Thr47=
ENST00000401061.8:c.140C=	ENSP00000383840.4:p.Thr47=
ENST00000616135.1:c.-32C=	ENSP00000478859.1:n.-32C=
NM_015506.2:c.140C=	NP_056321.2:p.Thr47=
XM_005270724.3:c.82-798C=	XP_005270781.1:n.82-798C=
XM_011541204.1:c.-32C=	XP_011539506.1:n.-32C=
NM_001330540.1:c.-32C=	NP_001317469.1:n.-32C=
XM_005270724.5:c.82-798C=	XP_005270781.1:n.82-798C=
NM_015506.3:c.140C= MANE Select	NP_056321.2:p.Thr47=
NM_001330540.2:c.-32C=	NP_001317469.1:n.-32C=