Canonical Allele Identifier: CA1148224331

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508975G= , CM000663.2:g.45508975G=	GRCh38
NC_000001.10:g.45974647G= , CM000663.1:g.45974647G=	GRCh37
NC_000001.9:g.45747234G=	NCBI36
NG_013378.1:g.13792G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.609G= MANE Select	ENSP00000383840.4:p.Trp203=
ENST00000401061.8:c.609G=	ENSP00000383840.4:p.Trp203=
ENST00000616135.1:c.438G=	ENSP00000478859.1:p.Trp146=
NM_015506.2:c.609G=	NP_056321.2:p.Trp203=
XM_005270724.3:c.414G=	XP_005270781.1:p.Trp138=
XM_011541204.1:c.438G=	XP_011539506.1:p.Trp146=
NM_001330540.1:c.438G=	NP_001317469.1:p.Trp146=
XM_005270724.5:c.414G=	XP_005270781.1:p.Trp138=
NM_015506.3:c.609G= MANE Select	NP_056321.2:p.Trp203=
NM_001330540.2:c.438G=	NP_001317469.1:p.Trp146=