Canonical Allele Identifier: CA736184935
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1181953857
gnomAD v3: 1-45500217-C-G
gnomAD v4: 1-45500217-C-G
MyVariant Identifiers: chr1:g.45965889C>G (hg19) chr1:g.45500217C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500217C>G , CM000663.2:g.45500217C>G GRCh38
NC_000001.10:g.45965889C>G , CM000663.1:g.45965889C>G GRCh37
NC_000001.9:g.45738476C>G NCBI36
NG_013378.1:g.5034C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-116C>G ENSP00000383840.4:n.-116C>G
NM_015506.2:c.-116C>G NP_056321.2:n.-116C>G
NM_001330540.1:c.-338C>G NP_001317469.1:n.-338C>G
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