Canonical Allele Identifier: CA417705506

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973940A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508268A>C , CM000663.2:g.45508268A>C	GRCh38
NC_000001.10:g.45973940A>C , CM000663.1:g.45973940A>C	GRCh37
NC_000001.9:g.45746527A>C	NCBI36
NG_013378.1:g.13085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.333A>C MANE Select	ENSP00000383840.4:p.Arg111=
ENST00000401061.8:c.333A>C	ENSP00000383840.4:p.Arg111=
ENST00000616135.1:c.162A>C	ENSP00000478859.1:p.Arg54=
NM_015506.2:c.333A>C	NP_056321.2:p.Arg111=
XM_005270724.3:c.138A>C	XP_005270781.1:p.Arg46=
XM_011541204.1:c.162A>C	XP_011539506.1:p.Arg54=
NM_001330540.1:c.162A>C	NP_001317469.1:p.Arg54=
XM_005270724.5:c.138A>C	XP_005270781.1:p.Arg46=
NM_015506.3:c.333A>C MANE Select	NP_056321.2:p.Arg111=
NM_001330540.2:c.162A>C	NP_001317469.1:p.Arg54=