Canonical Allele Identifier: CA2645390708
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500294-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500294G>C , CM000663.2:g.45500294G>C GRCh38
NC_000001.10:g.45965966G>C , CM000663.1:g.45965966G>C GRCh37
NC_000001.9:g.45738553G>C NCBI36
NG_013378.1:g.5111G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-39G>C ENSP00000383840.4:n.-39G>C
NM_015506.2:c.-39G>C NP_056321.2:n.-39G>C
NM_001330540.1:c.-261G>C NP_001317469.1:n.-261G>C
XM_005270724.5:c.-39G>C XP_005270781.1:n.-39G>C
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