Canonical Allele Identifier: CA2473783595

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508686T= , CM000663.2:g.45508686T=	GRCh38
NC_000001.10:g.45974358T= , CM000663.1:g.45974358T=	GRCh37
NC_000001.9:g.45746945T=	NCBI36
NG_013378.1:g.13503T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.430-110T= MANE Select	ENSP00000383840.4:n.430-110T=
ENST00000401061.8:c.430-110T=	ENSP00000383840.4:n.430-110T=
ENST00000616135.1:c.259-110T=	ENSP00000478859.1:n.259-110T=
NM_015506.2:c.430-110T=	NP_056321.2:n.430-110T=
XM_005270724.3:c.235-110T=	XP_005270781.1:n.235-110T=
XM_011541204.1:c.259-110T=	XP_011539506.1:n.259-110T=
NM_001330540.1:c.259-110T=	NP_001317469.1:n.259-110T=
XM_005270724.5:c.235-110T=	XP_005270781.1:n.235-110T=
NM_015506.3:c.430-110T= MANE Select	NP_056321.2:n.430-110T=
NM_001330540.2:c.259-110T=	NP_001317469.1:n.259-110T=