Canonical Allele Identifier: CA417703413

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643516724
• MyVariant Identifiers: chr1:g.45966025G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500353G>A , CM000663.2:g.45500353G>A	GRCh38
NC_000001.10:g.45966025G>A , CM000663.1:g.45966025G>A	GRCh37
NC_000001.9:g.45738612G>A	NCBI36
NG_013378.1:g.5170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.21G>A MANE Select	ENSP00000383840.4:p.Glu7=
ENST00000401061.8:c.21G>A	ENSP00000383840.4:p.Glu7=
ENST00000616135.1:c.-151G>A	ENSP00000478859.1:n.-151G>A
NM_015506.2:c.21G>A	NP_056321.2:p.Glu7=
XM_005270724.3:c.21G>A	XP_005270781.1:p.Glu7=
XM_011541204.1:c.-202G>A	XP_011539506.1:n.-202G>A
NM_001330540.1:c.-202G>A	NP_001317469.1:n.-202G>A
XM_005270724.5:c.21G>A	XP_005270781.1:p.Glu7=
NM_015506.3:c.21G>A MANE Select	NP_056321.2:p.Glu7=
NM_001330540.2:c.-202G>A	NP_001317469.1:n.-202G>A