Canonical Allele Identifier: CA2473783086

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507555G= , CM000663.2:g.45507555G=	GRCh38
NC_000001.10:g.45973227G= , CM000663.1:g.45973227G=	GRCh37
NC_000001.9:g.45745814G=	NCBI36
NG_013378.1:g.12372G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.276+5G= MANE Select	ENSP00000383840.4:n.276+5G=
ENST00000401061.8:c.276+5G=	ENSP00000383840.4:n.276+5G=
ENST00000616135.1:c.105+5G=	ENSP00000478859.1:n.105+5G=
NM_015506.2:c.276+5G=	NP_056321.2:n.276+5G=
XM_005270724.3:c.82-657G=	XP_005270781.1:n.82-657G=
XM_011541204.1:c.105+5G=	XP_011539506.1:n.105+5G=
NM_001330540.1:c.105+5G=	NP_001317469.1:n.105+5G=
XM_005270724.5:c.82-657G=	XP_005270781.1:n.82-657G=
NM_015506.3:c.276+5G= MANE Select	NP_056321.2:n.276+5G=
NM_001330540.2:c.105+5G=	NP_001317469.1:n.105+5G=