Canonical Allele Identifier: CA2645390704
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500285-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500285T>A , CM000663.2:g.45500285T>A GRCh38
NC_000001.10:g.45965957T>A , CM000663.1:g.45965957T>A GRCh37
NC_000001.9:g.45738544T>A NCBI36
NG_013378.1:g.5102T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-48T>A ENSP00000383840.4:n.-48T>A
NM_015506.2:c.-48T>A NP_056321.2:n.-48T>A
NM_001330540.1:c.-270T>A NP_001317469.1:n.-270T>A
XM_005270724.5:c.-48T>A XP_005270781.1:n.-48T>A
Search 100 bp 5'
Search 100 bp 3'