Canonical Allele Identifier: CA272842
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 161119
ClinVar RCV Id: RCV000148300
dbSNP Id: rs606231425

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508830G>A , CM000663.2:g.45508830G>A GRCh38
NC_000001.10:g.45974502G>A , CM000663.1:g.45974502G>A GRCh37
NC_000001.9:g.45747089G>A NCBI36
NG_013378.1:g.13647G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.464G>A MANE Select ENSP00000383840.4:p.Gly155Glu
ENST00000401061.8:c.464G>A ENSP00000383840.4:p.Gly155Glu
ENST00000616135.1:c.293G>A ENSP00000478859.1:p.Gly98Glu
NM_015506.2:c.464G>A NP_056321.2:p.Gly155Glu
XM_005270724.3:c.269G>A XP_005270781.1:p.Gly90Glu
XM_011541204.1:c.293G>A XP_011539506.1:p.Gly98Glu
NM_001330540.1:c.293G>A NP_001317469.1:p.Gly98Glu
XM_005270724.5:c.269G>A XP_005270781.1:p.Gly90Glu
NM_015506.3:c.464G>A MANE Select NP_056321.2:p.Gly155Glu
NM_001330540.2:c.293G>A NP_001317469.1:p.Gly98Glu