Canonical Allele Identifier: CA2473783068

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507504A= , CM000663.2:g.45507504A=	GRCh38
NC_000001.10:g.45973176A= , CM000663.1:g.45973176A=	GRCh37
NC_000001.9:g.45745763A=	NCBI36
NG_013378.1:g.12321A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.230A= MANE Select	ENSP00000383840.4:p.Asp77=
ENST00000401061.8:c.230A=	ENSP00000383840.4:p.Asp77=
ENST00000616135.1:c.59A=	ENSP00000478859.1:p.Asp20=
NM_015506.2:c.230A=	NP_056321.2:p.Asp77=
XM_005270724.3:c.82-708A=	XP_005270781.1:n.82-708A=
XM_011541204.1:c.59A=	XP_011539506.1:p.Asp20=
NM_001330540.1:c.59A=	NP_001317469.1:p.Asp20=
XM_005270724.5:c.82-708A=	XP_005270781.1:n.82-708A=
NM_015506.3:c.230A= MANE Select	NP_056321.2:p.Asp77=
NM_001330540.2:c.59A=	NP_001317469.1:p.Asp20=