Canonical Allele Identifier: CA417704638

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973171G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507499G>T , CM000663.2:g.45507499G>T	GRCh38
NC_000001.10:g.45973171G>T , CM000663.1:g.45973171G>T	GRCh37
NC_000001.9:g.45745758G>T	NCBI36
NG_013378.1:g.12316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.225G>T MANE Select	ENSP00000383840.4:p.Leu75=
ENST00000401061.8:c.225G>T	ENSP00000383840.4:p.Leu75=
ENST00000616135.1:c.54G>T	ENSP00000478859.1:p.Leu18=
NM_015506.2:c.225G>T	NP_056321.2:p.Leu75=
XM_005270724.3:c.82-713G>T	XP_005270781.1:n.82-713G>T
XM_011541204.1:c.54G>T	XP_011539506.1:p.Leu18=
NM_001330540.1:c.54G>T	NP_001317469.1:p.Leu18=
XM_005270724.5:c.82-713G>T	XP_005270781.1:n.82-713G>T
NM_015506.3:c.225G>T MANE Select	NP_056321.2:p.Leu75=
NM_001330540.2:c.54G>T	NP_001317469.1:p.Leu18=