Canonical Allele Identifier: CA2473780145
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1643512319
gnomAD v4: 1-45500260-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500260C>G , CM000663.2:g.45500260C>G GRCh38
NC_000001.10:g.45965932C>G , CM000663.1:g.45965932C>G GRCh37
NC_000001.9:g.45738519C>G NCBI36
NG_013378.1:g.5077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-73C>G ENSP00000383840.4:n.-73C>G
NM_015506.2:c.-73C>G NP_056321.2:n.-73C>G
NM_001330540.1:c.-295C>G NP_001317469.1:n.-295C>G
XM_005270724.5:c.-73C>G XP_005270781.1:n.-73C>G
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