Canonical Allele Identifier: CA2473783689

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508889C= , CM000663.2:g.45508889C=	GRCh38
NC_000001.10:g.45974561C= , CM000663.1:g.45974561C=	GRCh37
NC_000001.9:g.45747148C=	NCBI36
NG_013378.1:g.13706C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.523C= MANE Select	ENSP00000383840.4:p.Pro175=
ENST00000401061.8:c.523C=	ENSP00000383840.4:p.Pro175=
ENST00000616135.1:c.352C=	ENSP00000478859.1:p.Pro118=
NM_015506.2:c.523C=	NP_056321.2:p.Pro175=
XM_005270724.3:c.328C=	XP_005270781.1:p.Pro110=
XM_011541204.1:c.352C=	XP_011539506.1:p.Pro118=
NM_001330540.1:c.352C=	NP_001317469.1:p.Pro118=
XM_005270724.5:c.328C=	XP_005270781.1:p.Pro110=
NM_015506.3:c.523C= MANE Select	NP_056321.2:p.Pro175=
NM_001330540.2:c.352C=	NP_001317469.1:p.Pro118=