Canonical Allele Identifier: CA340132516
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1302721747
gnomAD v3: 1-45508356-G-A
gnomAD v4: 1-45508356-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508356G>A , CM000663.2:g.45508356G>A GRCh38
NC_000001.10:g.45974028G>A , CM000663.1:g.45974028G>A GRCh37
NC_000001.9:g.45746615G>A NCBI36
NG_013378.1:g.13173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.421G>A MANE Select ENSP00000383840.4:p.Gly141Arg
ENST00000401061.8:c.421G>A ENSP00000383840.4:p.Gly141Arg
ENST00000616135.1:c.250G>A ENSP00000478859.1:p.Gly84Arg
NM_015506.2:c.421G>A NP_056321.2:p.Gly141Arg
XM_005270724.3:c.226G>A XP_005270781.1:p.Gly76Arg
XM_011541204.1:c.250G>A XP_011539506.1:p.Gly84Arg
NM_001330540.1:c.250G>A NP_001317469.1:p.Gly84Arg
XM_005270724.5:c.226G>A XP_005270781.1:p.Gly76Arg
NM_015506.3:c.421G>A MANE Select NP_056321.2:p.Gly141Arg
NM_001330540.2:c.250G>A NP_001317469.1:p.Gly84Arg