Canonical Allele Identifier: CA827721
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 297484
ClinVar RCV Id: RCV000260401 RCV000504286 RCV001074563 RCV001582921 RCV003417958
dbSNP Id: rs200094982
ExAC: 1:45973996 A / G
gnomAD v2: 1-45973996-A-G
gnomAD v3: 1-45508324-A-G
gnomAD v4: 1-45508324-A-G
MyVariant Identifiers: chr1:g.45973996A>G (hg19) chr1:g.45508324A>G (hg38)
PubMed: PMID:19370762 PMID:24210589
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508324A>G , CM000663.2:g.45508324A>G GRCh38
NC_000001.10:g.45973996A>G , CM000663.1:g.45973996A>G GRCh37
NC_000001.9:g.45746583A>G NCBI36
NG_013378.1:g.13141A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.389A>G MANE Select ENSP00000383840.4:p.Tyr130Cys
ENST00000401061.8:c.389A>G ENSP00000383840.4:p.Tyr130Cys
ENST00000616135.1:c.218A>G ENSP00000478859.1:p.Tyr73Cys
NM_015506.2:c.389A>G NP_056321.2:p.Tyr130Cys
XM_005270724.3:c.194A>G XP_005270781.1:p.Tyr65Cys
XM_011541204.1:c.218A>G XP_011539506.1:p.Tyr73Cys
NM_001330540.1:c.218A>G NP_001317469.1:p.Tyr73Cys
XM_005270724.5:c.194A>G XP_005270781.1:p.Tyr65Cys
NM_015506.3:c.389A>G MANE Select NP_056321.2:p.Tyr130Cys
NM_001330540.2:c.218A>G NP_001317469.1:p.Tyr73Cys
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