Canonical Allele Identifier: CA827605
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 582169
dbSNP Id: rs563710045
gnomAD v2: 1-45966044-G-A
gnomAD v3: 1-45500372-G-A
gnomAD v4: 1-45500372-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500372G>A , CM000663.2:g.45500372G>A GRCh38
NC_000001.10:g.45966044G>A , CM000663.1:g.45966044G>A GRCh37
NC_000001.9:g.45738631G>A NCBI36
NG_013378.1:g.5189G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.40G>A MANE Select ENSP00000383840.4:p.Asp14Asn
ENST00000401061.8:c.40G>A ENSP00000383840.4:p.Asp14Asn
ENST00000616135.1:c.-132G>A ENSP00000478859.1:n.-132G>A
NM_015506.2:c.40G>A NP_056321.2:p.Asp14Asn
XM_005270724.3:c.40G>A XP_005270781.1:p.Asp14Asn
XM_011541204.1:c.-183G>A XP_011539506.1:n.-183G>A
NM_001330540.1:c.-183G>A NP_001317469.1:n.-183G>A
XM_005270724.5:c.40G>A XP_005270781.1:p.Asp14Asn
NM_015506.3:c.40G>A MANE Select NP_056321.2:p.Asp14Asn
NM_001330540.2:c.-183G>A NP_001317469.1:n.-183G>A