Canonical Allele Identifier: CA1143915365

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507515C= , CM000663.2:g.45507515C=	GRCh38
NC_000001.10:g.45973187C= , CM000663.1:g.45973187C=	GRCh37
NC_000001.9:g.45745774C=	NCBI36
NG_013378.1:g.12332C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.241C= MANE Select	ENSP00000383840.4:p.Gln81=
ENST00000401061.8:c.241C=	ENSP00000383840.4:p.Gln81=
ENST00000616135.1:c.70C=	ENSP00000478859.1:p.Gln24=
NM_015506.2:c.241C=	NP_056321.2:p.Gln81=
XM_005270724.3:c.82-697C=	XP_005270781.1:n.82-697C=
XM_011541204.1:c.70C=	XP_011539506.1:p.Gln24=
NM_001330540.1:c.70C=	NP_001317469.1:p.Gln24=
XM_005270724.5:c.82-697C=	XP_005270781.1:n.82-697C=
NM_015506.3:c.241C= MANE Select	NP_056321.2:p.Gln81=
NM_001330540.2:c.70C=	NP_001317469.1:p.Gln24=