Canonical Allele Identifier: CA2473783756

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508990T= , CM000663.2:g.45508990T=	GRCh38
NC_000001.10:g.45974662T= , CM000663.1:g.45974662T=	GRCh37
NC_000001.9:g.45747249T=	NCBI36
NG_013378.1:g.13807T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.624T= MANE Select	ENSP00000383840.4:p.Ala208=
ENST00000401061.8:c.624T=	ENSP00000383840.4:p.Ala208=
ENST00000616135.1:c.453T=	ENSP00000478859.1:p.Ala151=
NM_015506.2:c.624T=	NP_056321.2:p.Ala208=
XM_005270724.3:c.429T=	XP_005270781.1:p.Ala143=
XM_011541204.1:c.453T=	XP_011539506.1:p.Ala151=
NM_001330540.1:c.453T=	NP_001317469.1:p.Ala151=
XM_005270724.5:c.429T=	XP_005270781.1:p.Ala143=
NM_015506.3:c.624T= MANE Select	NP_056321.2:p.Ala208=
NM_001330540.2:c.453T=	NP_001317469.1:p.Ala151=