Canonical Allele Identifier: CA1141580769

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508282T= , CM000663.2:g.45508282T=	GRCh38
NC_000001.10:g.45973954T= , CM000663.1:g.45973954T=	GRCh37
NC_000001.9:g.45746541T=	NCBI36
NG_013378.1:g.13099T=

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.347T= MANE Select	NP_056321.2:p.Leu116=
ENST00000401061.9:c.347T= MANE Select	ENSP00000383840.4:p.Leu116=
NM_001330540.1:c.176T=	NP_001317469.1:p.Leu59=
NM_001330540.2:c.176T=	NP_001317469.1:p.Leu59=
NM_015506.2:c.347T=	NP_056321.2:p.Leu116=
ENST00000401061.8:c.347T=	ENSP00000383840.4:p.Leu116=
ENST00000616135.1:c.176T=	ENSP00000478859.1:p.Leu59=
XM_005270724.3:c.152T=	XP_005270781.1:p.Leu51=
XM_005270724.5:c.152T=	XP_005270781.1:p.Leu51=
XM_011541204.1:c.176T=	XP_011539506.1:p.Leu59=