Canonical Allele Identifier: CA2645390689
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500241-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500241C>A , CM000663.2:g.45500241C>A GRCh38
NC_000001.10:g.45965913C>A , CM000663.1:g.45965913C>A GRCh37
NC_000001.9:g.45738500C>A NCBI36
NG_013378.1:g.5058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-92C>A ENSP00000383840.4:n.-92C>A
NM_015506.2:c.-92C>A NP_056321.2:n.-92C>A
NM_001330540.1:c.-314C>A NP_001317469.1:n.-314C>A
XM_005270724.5:c.-92C>A XP_005270781.1:n.-92C>A
Search 100 bp 5'
Search 100 bp 3'